122 results on '"Martínez-Castrillo, J. C."'
Search Results
2. Sex Differences in Motor and Non-Motor Symptoms among Spanish Patients with Parkinson's Disease
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Fundación Centro de Investigación de Enfermedades Neurológicas, Alpha Bioresearch, Instituto de Salud Carlos III, Santos-García, Diego [0000-0002-3126-5111], Laguna, Ariadna [0000-0002-9732-6677], Hernández-Vara, Jorge [0000-0002-9129-5224], Cores Bartolomé, Carlos [0000-0002-8352-2263], García Díaz, Iago [0000-0003-3304-0714], Cabo, Iria [0000-0003-2436-6499], González-Aramburu, Isabel [0000-0002-3696-4093], Gómez Mayordomo, Víctor [0000-0001-9343-8439], Martínez-Castrillo, J. C. [0000-0001-7744-6850], Sánchez Alonso, Pilar [0000-0003-0496-4707], López-Ariztegui, Nuria [0000-0001-7172-3191], Menéndez-González, Manuel [0000-0002-5218-0774], Martínez-Martín, Pablo [0000-0003-0837-5280], Mir, Pablo [0000-0003-1656-302X], Santos-García, Diego, Laguna, Ariadna, Hernández-Vara, Jorge, Deus Fonticoba, T. de, Cores Bartolomé, Carlos, Feal Painceiras, María J., Íñiguez-Alvarado, María Cristina, García Díaz, Iago, Jesús Maestre, Silvia, Buongiorno, Maria Teresa, Planellas, Lluís, Cosgaya, Marina, García Caldentey, Juan, Caballol, Nuria, Legarda, Inés, Cabo, Iria, López-Manzanares, Lydia, González-Aramburu, Isabel, Ávila-Rivera, María A., Gómez Mayordomo, Víctor, Nogueira, Víctor, Puente, Víctor, Dotor, Julio, Borrué, Carmen, Solano Vila, Berta, Álvarez-Sauco, María, Vela, Lydia, Escalante, Sonia, Cubo, Esther, Carrillo Padilla, Francisco, Martínez-Castrillo, J. C., Sánchez Alonso, Pilar, Alonso Losada, María G., López-Ariztegui, Nuria, Gastón, Itziar, Kulisevsky, Jaime, Menéndez-González, Manuel, Seijo, Manuel, Ruiz Martínez, Javier, Valero, Caridad, Kurtis, Mónica, González Ardura, Jessica, Alonso Redondo, Rubén, Ordás, Carlos, López-Díaz, Luis M., McAfee, Darrian, Martínez-Martín, Pablo, Mir, Pablo, COPPADIS Study Group, Fundación Centro de Investigación de Enfermedades Neurológicas, Alpha Bioresearch, Instituto de Salud Carlos III, Santos-García, Diego [0000-0002-3126-5111], Laguna, Ariadna [0000-0002-9732-6677], Hernández-Vara, Jorge [0000-0002-9129-5224], Cores Bartolomé, Carlos [0000-0002-8352-2263], García Díaz, Iago [0000-0003-3304-0714], Cabo, Iria [0000-0003-2436-6499], González-Aramburu, Isabel [0000-0002-3696-4093], Gómez Mayordomo, Víctor [0000-0001-9343-8439], Martínez-Castrillo, J. C. [0000-0001-7744-6850], Sánchez Alonso, Pilar [0000-0003-0496-4707], López-Ariztegui, Nuria [0000-0001-7172-3191], Menéndez-González, Manuel [0000-0002-5218-0774], Martínez-Martín, Pablo [0000-0003-0837-5280], Mir, Pablo [0000-0003-1656-302X], Santos-García, Diego, Laguna, Ariadna, Hernández-Vara, Jorge, Deus Fonticoba, T. de, Cores Bartolomé, Carlos, Feal Painceiras, María J., Íñiguez-Alvarado, María Cristina, García Díaz, Iago, Jesús Maestre, Silvia, Buongiorno, Maria Teresa, Planellas, Lluís, Cosgaya, Marina, García Caldentey, Juan, Caballol, Nuria, Legarda, Inés, Cabo, Iria, López-Manzanares, Lydia, González-Aramburu, Isabel, Ávila-Rivera, María A., Gómez Mayordomo, Víctor, Nogueira, Víctor, Puente, Víctor, Dotor, Julio, Borrué, Carmen, Solano Vila, Berta, Álvarez-Sauco, María, Vela, Lydia, Escalante, Sonia, Cubo, Esther, Carrillo Padilla, Francisco, Martínez-Castrillo, J. C., Sánchez Alonso, Pilar, Alonso Losada, María G., López-Ariztegui, Nuria, Gastón, Itziar, Kulisevsky, Jaime, Menéndez-González, Manuel, Seijo, Manuel, Ruiz Martínez, Javier, Valero, Caridad, Kurtis, Mónica, González Ardura, Jessica, Alonso Redondo, Rubén, Ordás, Carlos, López-Díaz, Luis M., McAfee, Darrian, Martínez-Martín, Pablo, Mir, Pablo, and COPPADIS Study Group
- Abstract
[Background and objective] Sex plays a role in Parkinson's disease (PD) mechanisms. We analyzed sex difference manifestations among Spanish patients with PD., [Patients and Methods] PD patients who were recruited from the Spanish cohort COPPADIS from January 2016 to November 2017 were included. A cross-sectional and a two-year follow-up analysis were conducted. Univariate analyses and general linear model repeated measure were used., [Results] Results: At baseline, data from 681 PD patients (mean age 62.54 ± 8.93) fit the criteria for analysis. Of them, 410 (60.2%) were males and 271 (39.8%) females. There were no differences between the groups in mean age (62.36 ± 8.73 vs. 62.8 ± 9.24; p = 0.297) or in the time from symptoms onset (5.66 ± 4.65 vs. 5.21 ± 4.11; p = 0.259). Symptoms such as depression (p < 0.0001), fatigue (p < 0.0001), and pain (p < 0.00001) were more frequent and/or severe in females, whereas other symptoms such as hypomimia (p < 0.0001), speech problems (p < 0.0001), rigidity (p < 0.0001), and hypersexuality (p < 0.0001) were more noted in males. Women received a lower levodopa equivalent daily dose (p = 0.002). Perception of quality of life was generally worse in females (PDQ-39, p = 0.002; EUROHIS-QOL8, p = 0.009). After the two-year follow-up, the NMS burden (Non-Motor Symptoms Scale total score) increased more significantly in males (p = 0.012) but the functional capacity (Schwab and England Activities of Daily Living Scale) was more impaired in females (p = 0.001)., [Conclusion] The present study demonstrates that there are important sex differences in PD. Long-term prospective comparative studies are needed.
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- 2023
3. Suicidal ideation among people with Parkinson's disease and comparison with a control group
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Fundación Centro de Investigación de Enfermedades Neurológicas, Alpha Bioresearch, Instituto de Salud Carlos III, Santos-García, Diego [0000-0002-3126-5111], Santos-García, Diego, Deus Fonticoba, T. de, Cores Bartolomé, Carlos, Feal Painceiras, María J., García Díaz, Iago, Íñiguez-Alvarado, María Cristina, Jesús Maestre, Silvia, Buongiorno, Maria Teresa, Planellas, Lluís, Cosgaya, Marina, García Caldentey, Juan, Caballol, Nuria, Legarda, Inés, Hernández-Vara, Jorge, Cabo, Iria, López-Manzanares, Lydia, González-Aramburu, Isabel, Ávila-Rivera, María A., Gómez Mayordomo, Víctor, Nogueira, Víctor, Puente, Víctor, Dotor, Julio, Borrué, Carmen, Solano Vila, Berta, Álvarez-Sauco, María, Vela, Lydia, Escalante, Sonia, Cubo, Esther, Carrillo Padilla, Francisco, Martínez-Castrillo, J. C., Sánchez Alonso, Pilar, Alonso Losada, María G., López-Ariztegui, Nuria, Gastón, Itziar, Kulisevsky, Jaime, Blázquez-Estrada, Marta, Seijo, Manuel, Ruiz Martínez, Javier, Valero, Caridad, Kurtis, Mónica, Fábregues-Boixar, Oriol de, González Ardura, Jessica, Alonso Redondo, Rubén, Ordás, Carlos, López-Díaz, Luis M., McAfee, Darrian, Martínez-Martín, Pablo, Mir, Pablo, Fundación Centro de Investigación de Enfermedades Neurológicas, Alpha Bioresearch, Instituto de Salud Carlos III, Santos-García, Diego [0000-0002-3126-5111], Santos-García, Diego, Deus Fonticoba, T. de, Cores Bartolomé, Carlos, Feal Painceiras, María J., García Díaz, Iago, Íñiguez-Alvarado, María Cristina, Jesús Maestre, Silvia, Buongiorno, Maria Teresa, Planellas, Lluís, Cosgaya, Marina, García Caldentey, Juan, Caballol, Nuria, Legarda, Inés, Hernández-Vara, Jorge, Cabo, Iria, López-Manzanares, Lydia, González-Aramburu, Isabel, Ávila-Rivera, María A., Gómez Mayordomo, Víctor, Nogueira, Víctor, Puente, Víctor, Dotor, Julio, Borrué, Carmen, Solano Vila, Berta, Álvarez-Sauco, María, Vela, Lydia, Escalante, Sonia, Cubo, Esther, Carrillo Padilla, Francisco, Martínez-Castrillo, J. C., Sánchez Alonso, Pilar, Alonso Losada, María G., López-Ariztegui, Nuria, Gastón, Itziar, Kulisevsky, Jaime, Blázquez-Estrada, Marta, Seijo, Manuel, Ruiz Martínez, Javier, Valero, Caridad, Kurtis, Mónica, Fábregues-Boixar, Oriol de, González Ardura, Jessica, Alonso Redondo, Rubén, Ordás, Carlos, López-Díaz, Luis M., McAfee, Darrian, Martínez-Martín, Pablo, and Mir, Pablo
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[Background] Detection of suicidal ideation (SI) is key for trying to prevent suicide. The aim of this study was to analyze the frequency of SI and related factors in Spanish people with Parkinson's Disease (PwPD) and to compare them with a control group., [Methods] PD patients and controls recruited from the Spanish cohort COPPADIS from January 2016 to November 2017 were included. Two visits were conducted: V0 (baseline); V2 (2-year ± 1 month follow-up). SI was defined as a score ≥1 on item nine of the Beck Depression Inventory-II (BDI-II). Regression analyses were conducted to identify factors related to SI., [Results] At baseline, 693 PwPD (60.2% males; 62.59 ± 8.91 years old) and 207 controls (49.8% males; 60.99 ± 8.32 years old) were included. No differences between PwPD and controls were detected in SI frequency at either V0 (5.1% [35/693] vs. 4.3% [9/207]; p = 0.421) or at V2 (5.1% [26/508] vs. 4.8% [6/125]; p = 0.549). Major depression (MD) and a worse quality of life were associated with SI at both visits in PwPD: V0 (MD, OR = 5.63; p = 0.003; PDQ-39, OR = 1.06; p = 0.021); V2 (MD, OR = 4.75; p = 0.027; EUROHIS-QOL8, OR = 0.22; p = 0.006). A greater increase in the BDI-II total score from V0 to V2 was the only factor predicting SI at V2 (OR = 1.21; p = 0.002) along with an increase in the total number of non-antiparkinsonian drugs (OR = 1.39; p = 0.041)., [Conclusion] The frequency of SI (5%) in PwPD was similar to in controls. Depression, a worse quality of life, and a greater comorbidity were related to SI.
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- 2023
4. Falls Predict Acute Hospitalization in Parkinson's Disease
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Santos-García, Diego, Deus Fonticoba, T. de, Cores Bartolomé, Carlos, Suárez Castro, Ester, Hernández-Vara, Jorge, Jesús Maestre, Silvia, Mir, Pablo, Cosgaya, Marina, Martí, María-José, Pastor, Pau, Cabo, Iria, Seijo, Manuel, Legarda, Inés, Vives, Bárbara, Caballol, Nuria, Ruiz Martínez, Javier, Croitoru, Ioana, Cubo, Esther, Miranda, Javier, Alonso Losada, María G., Labandeira, Carmen, López-Ariztegui, Nuria, Morales Casado, M. I., González-Aramburu, Isabel, Infante, Jon, Escalante, Sonia, Bernardo, Noemí, Blázquez-Estrada, Marta, Menéndez-González, Manuel, García Caldentey, Juan, Borrué, Carmen, Vela, Lydia, Catalán, Maria José, Gómez Mayordomo, Víctor, Kurtis, Mónica, Prieto López, Cristina, Ordás, Carlos, Nogueira, Víctor, López-Manzanares, Lydia, Ávila-Rivera, María A., Puente, Víctor, García Moreno, J. M., Solano Vila, Berta, Álvarez-Sauco, María, Carrillo Padilla, Francisco, Martínez-Castrillo, J. C., Sánchez Alonso, Pilar, Gastón, Itziar, Kulisevsky, Jaime, Valero, Caridad, Fábregues-Boixar, Oriol de, González Ardura, Jessica, López-Díaz, Luis M., Martínez-Martín, Pablo, Santos-García, Diego, Deus Fonticoba, T. de, Cores Bartolomé, Carlos, Suárez Castro, Ester, Hernández-Vara, Jorge, Jesús Maestre, Silvia, Mir, Pablo, Cosgaya, Marina, Martí, María-José, Pastor, Pau, Cabo, Iria, Seijo, Manuel, Legarda, Inés, Vives, Bárbara, Caballol, Nuria, Ruiz Martínez, Javier, Croitoru, Ioana, Cubo, Esther, Miranda, Javier, Alonso Losada, María G., Labandeira, Carmen, López-Ariztegui, Nuria, Morales Casado, M. I., González-Aramburu, Isabel, Infante, Jon, Escalante, Sonia, Bernardo, Noemí, Blázquez-Estrada, Marta, Menéndez-González, Manuel, García Caldentey, Juan, Borrué, Carmen, Vela, Lydia, Catalán, Maria José, Gómez Mayordomo, Víctor, Kurtis, Mónica, Prieto López, Cristina, Ordás, Carlos, Nogueira, Víctor, López-Manzanares, Lydia, Ávila-Rivera, María A., Puente, Víctor, García Moreno, J. M., Solano Vila, Berta, Álvarez-Sauco, María, Carrillo Padilla, Francisco, Martínez-Castrillo, J. C., Sánchez Alonso, Pilar, Gastón, Itziar, Kulisevsky, Jaime, Valero, Caridad, Fábregues-Boixar, Oriol de, González Ardura, Jessica, López-Díaz, Luis M., and Martínez-Martín, Pablo
- Abstract
[Background] There is a need for identifying risk factors for hospitalization in Parkinson’s disease (PD) and also interventions to reduce acute hospital admission., [Objective] To analyze the frequency, causes, and predictors of acute hospitalization (AH) in PD patients from a Spanish cohort., [Methods] PD patients recruited from 35 centers of Spain from the COPPADIS-2015 (COhort of Patients with PArkinson’s DIsease in Spain, 2015) cohort from January 2016 to November 2017, were included in the study. In order to identify predictors of AH, Kaplan-Meier estimates of factors considered as potential predictors were obtained and Cox regression performed on time to hospital encounter 1-year after the baseline visit., [Results] Thirty-five out of 605 (5.8%) PD patients (62.5±8.9 years old; 59.8% males) presented an AH during the 1-year follow-up after the baseline visit. Traumatic falls represented the most frequent cause of admission, being 23.7% of all acute hospitalizations. To suffer from motor fluctuations (HR [hazard ratio] 2.461; 95% CI, 1.065–5.678; p = 0.035), a very severe non-motor symptoms burden (HR [hazard ratio] 2.828; 95% CI, 1.319–6.063; p = 0.008), falls (HR 3.966; 95% CI 1.757–8.470; p = 0.001), and dysphagia (HR 2.356; 95% CI 1.124–4.941; p = 0.023) was associated with AH after adjustment to age, gender, disease duration, levodopa equivalent daily dose, total number of non-antiparkinsonian drugs, and UPDRS-IIIOFF. Of the previous variables, only falls (HR 2.998; 95% CI 1.080–8.322; p = 0.035) was an independent predictor of AH., [Conclusion] Falls is an independent predictor of AH in PD patients.
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- 2023
5. Risk of Cognitive Impairment in Patients With Parkinson’s Disease With Visual Hallucinations and Subjective Cognitive Complaints
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Fundación Degen, Ministerio de Economía y Competitividad (España), Instituto de Salud Carlos III, Santos-García, Diego, Deus Fonticoba, T. de, Cores Bartolomé, Carlos, Feal Painceiras, María J., Paz González, J. M., Martínez Miró, Cristina, Jesús Maestre, Silvia, Aguilar, Miquel, Pastor, Pau, Planellas, Lluís, Cosgaya, Marina, García Caldentey, Juan, Caballol, Nuria, Legarda, Inés, Hernández-Vara, Jorge, Cabo, Iria, López-Manzanares, Lydia, González-Aramburu, Isabel, Maria A. Ávila Rivera,o, Gómez Mayordomo, Víctor, Nogueira, Víctor, Puente, Víctor, Dotor, Julio, Borrué, Carmen, Solano Vila, Berta, Álvarez-Sauco, María, Vela, Lydia, Escalante, Sonia, Cubo, Esther, Carrillo Padilla, Francisco, Martínez-Castrillo, J. C., Sánchez Alonso, Pilar, Alonso Losada, María G., López-Ariztegui, Nuria, Gastón, Itziar, Kulisevsky, Jaime, Blázquez-Estrada, Marta, Seijo, Manuel, Ruiz Martínez, Javier, Valero, Caridad, Kurtis, Mónica, Fábregues-Boixar, Oriol de, González Ardura, Jessica, Alonso Redondo, Rubén, Ordás, Carlos, López-Díaz, Luis M., McAfee, Darrian, Martínez-Martín, Pablo, Mir, Pablo, COPPADIS Study Group, Fundación Degen, Ministerio de Economía y Competitividad (España), Instituto de Salud Carlos III, Santos-García, Diego, Deus Fonticoba, T. de, Cores Bartolomé, Carlos, Feal Painceiras, María J., Paz González, J. M., Martínez Miró, Cristina, Jesús Maestre, Silvia, Aguilar, Miquel, Pastor, Pau, Planellas, Lluís, Cosgaya, Marina, García Caldentey, Juan, Caballol, Nuria, Legarda, Inés, Hernández-Vara, Jorge, Cabo, Iria, López-Manzanares, Lydia, González-Aramburu, Isabel, Maria A. Ávila Rivera,o, Gómez Mayordomo, Víctor, Nogueira, Víctor, Puente, Víctor, Dotor, Julio, Borrué, Carmen, Solano Vila, Berta, Álvarez-Sauco, María, Vela, Lydia, Escalante, Sonia, Cubo, Esther, Carrillo Padilla, Francisco, Martínez-Castrillo, J. C., Sánchez Alonso, Pilar, Alonso Losada, María G., López-Ariztegui, Nuria, Gastón, Itziar, Kulisevsky, Jaime, Blázquez-Estrada, Marta, Seijo, Manuel, Ruiz Martínez, Javier, Valero, Caridad, Kurtis, Mónica, Fábregues-Boixar, Oriol de, González Ardura, Jessica, Alonso Redondo, Rubén, Ordás, Carlos, López-Díaz, Luis M., McAfee, Darrian, Martínez-Martín, Pablo, Mir, Pablo, and COPPADIS Study Group
- Abstract
[Background and Purpose] Visual hallucinations (VH) and subjective cognitive complaints (SCC) are associated with cognitive impairment (CI) in Parkinson’s disease. Our aims were to determine the association between VH and SCC and the risk of CI development in a cohort of patients with Parkinson’s disease and normal cognition (PD-NC)., [Methods] Patients with PD-NC (total score of >80 on the Parkinson’s Disease Cognitive Rating Scale [PD-CRS]) recruited from the Spanish COPPADIS cohort from January 2016 to November 2017 were followed up after 2 years. Subjects with a score of ≥1 on domain 5 and item 13 of the Non-Motor Symptoms Scale at baseline (V0) were considered as “with SCC” and “with VH,” respectively. CI at the 2-year follow-up (plus or minus 1 month) (V2) was defined as a PD-CRS total score of <81., [Results] At V0 (n=376, 58.2% males, age 61.14±8.73 years [mean±SD]), the frequencies of VH and SCC were 13.6% and 62.2%, respectively. VH were more frequent in patients with SCC than in those without: 18.8% (44/234) vs 4.9% (7/142), p<0.0001. At V2, 15.2% (57/376) of the patients had developed CI. VH presenting at V0 was associated with a higher risk of CI at V2 (odds ratio [OR]=2.68, 95% confidence interval=1.05–6.83, p=0.0.039) after controlling for the effects of age, disease duration, education, medication, motor and nonmotor status, mood, and PD-CRS total score at V0. Although SCC were not associated with CI at V2, presenting both VH and SCC at V0 increased the probability of having CI at V2 (OR=3.71, 95% confidence interval=1.36–10.17, p=0.011)., [Conclusions] VH were associated with the development of SCC and CI at the 2-year follow-up in patients with PD-NC.
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- 2023
6. Staging Parkinson’s Disease According to the MNCD (Motor/Non-motor/Cognition/Dependency) Classification Correlates with Disease Severity and Quality of Life
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Fundación Degen, Alpha Bioresearch, Ministerio de Economía y Competitividad (España), Instituto de Salud Carlos III, Santos-García, Diego, Deus Fonticoba, T. de, Cores Bartolomé, Carlos, Feal Painceiras, María J., Íñiguez-Alvarado, María Cristina, García Díaz, Iago, Jesús Maestre, Silvia, Buongiorno, Maria Teresa, Planellas, Lluís, Cosgaya, Marina, García Caldentey, Juan, Caballol, Nuria, Legarda, Inés, Hernández-Vara, Jorge, Cabo, Iria, López-Manzanares, Lydia, González-Aramburu, Isabel, Ávila-Rivera, María A., Gómez Mayordomo, Víctor, Nogueira, Víctor, Puente, Víctor, Dotor, Julio, Borrué, Carmen, Solano Vila, Berta, Álvarez-Sauco, María, Vela, Lydia, Escalante, Sonia, Cubo, Esther, Carrillo Padilla, Francisco, Martínez-Castrillo, J. C., Sánchez Alonso, Pilar, Alonso Losada, María G., López-Ariztegui, Nuria, Gastón, Itziar, Kulisevsky, Jaime, Menéndez-González, Manuel, Seijo, Manuel, Ruiz Martínez, Javier, Valero, Caridad, Kurtis, Mónica, González Ardura, Jessica, Alonso Redondo, Rubén, Ordás, Carlos, López-Díaz, Luis M., McAfee, Darrian, Calopa, Matildeoo, Carrillo, Fátima, Escamilla-Sevilla, Francisco, Freire, Eric, Gómez Esteban, Juan Carlos, García-Ramos, Rocío, Luquín, María Rosario Isabel, Martínez Torres, Irene, Sesar Ignacio, Ángel, Martínez-Martín, Pablo, Mir, Pablo, COPPADIS Study Group, Fundación Degen, Alpha Bioresearch, Ministerio de Economía y Competitividad (España), Instituto de Salud Carlos III, Santos-García, Diego, Deus Fonticoba, T. de, Cores Bartolomé, Carlos, Feal Painceiras, María J., Íñiguez-Alvarado, María Cristina, García Díaz, Iago, Jesús Maestre, Silvia, Buongiorno, Maria Teresa, Planellas, Lluís, Cosgaya, Marina, García Caldentey, Juan, Caballol, Nuria, Legarda, Inés, Hernández-Vara, Jorge, Cabo, Iria, López-Manzanares, Lydia, González-Aramburu, Isabel, Ávila-Rivera, María A., Gómez Mayordomo, Víctor, Nogueira, Víctor, Puente, Víctor, Dotor, Julio, Borrué, Carmen, Solano Vila, Berta, Álvarez-Sauco, María, Vela, Lydia, Escalante, Sonia, Cubo, Esther, Carrillo Padilla, Francisco, Martínez-Castrillo, J. C., Sánchez Alonso, Pilar, Alonso Losada, María G., López-Ariztegui, Nuria, Gastón, Itziar, Kulisevsky, Jaime, Menéndez-González, Manuel, Seijo, Manuel, Ruiz Martínez, Javier, Valero, Caridad, Kurtis, Mónica, González Ardura, Jessica, Alonso Redondo, Rubén, Ordás, Carlos, López-Díaz, Luis M., McAfee, Darrian, Calopa, Matildeoo, Carrillo, Fátima, Escamilla-Sevilla, Francisco, Freire, Eric, Gómez Esteban, Juan Carlos, García-Ramos, Rocío, Luquín, María Rosario Isabel, Martínez Torres, Irene, Sesar Ignacio, Ángel, Martínez-Martín, Pablo, Mir, Pablo, and COPPADIS Study Group
- Abstract
Background: Recently, a novel simple classification called MNCD, based on 4 axes (Motor; Non-motor; Cognition; Dependency) and 5 stages, has been proposed to classify Parkinson's disease (PD)., Objective: Our aim was to apply the MNCD classification in a cohort of PD patients for the first time and also to analyze the correlation with quality of life (QoL) and disease severity., Methods: Data from the baseline visit of PD patients recruited from 35 centers in Spain from the COPPADIS cohort fromJanuary 2016 to November 2017 were used to apply the MNCD classification. Three instruments were used to assess QoL:1) the 39-item Parkinson's disease Questionnaire [PDQ-39]); PQ-10; the EUROHIS-QOL 8-item index (EUROHIS-QOL8)., Results: Four hundred and thirty-nine PD patients (62.05±7.84 years old; 59% males) were included. MNCD stage was:stage 1, 8.4% (N = 37); stage 2, 62% (N = 272); stage 3, 28.2% (N = 124); stage 4-5, 1.4% (N = 6). A more advancedMNCD stage was associated with a higher score on the PDQ39SI (p < 0.0001) and a lower score on the PQ-10 (p< 0.0001) and EUROHIS-QOL8 (p< 0.0001). In many other aspects of the disease, such as disease duration, levodopa equivalent daily dose, motor symptoms, non-motor symptoms, and autonomy for activities of daily living, an association between the stage and severity was observed, with data indicating a progressive worsening related to disease progression throughout the proposed stages., Conclusion: Staging PD according to the MNCD classification correlated with QoL and disease severity. The MNCD could be a proper tool to monitor the progression of PD.
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- 2023
7. Staging Parkinson's disease according to the MNCD classification correlates with caregiver burden
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Ministerio de Economía y Competitividad (España), Instituto de Salud Carlos III, Junta de Andalucía, European Commission, Fundación Alimerka, Sociedad Andaluza de Neurología, Jacques and Gloria Gossweiler Foundation, Fundación Alicia Koplowitz, Fundación Mutua Madrileña, Santos-García, Diego, Deus Fonticoba, T. de, Cores Bartolomé, Carlos, Feal Painceiras, María J., García Díaz, Iago, Íñiguez-Alvarado, María Cristina, Paz, José Manuel, Jesús Maestre, Silvia, Cosgaya, Marina, García Caldentey, Juan, Caballol, Nuria, Legarda, Inés, Hernández-Vara, Jorge, Cabo, Iria, López-Manzanares, Lydia, González-Aramburu, Isabel, Ávila-Rivera, María A., Gómez Mayordomo, Víctor, Nogueira, Víctor, Dotor, Julio, Borrué, Carmen, Solano Vila, Berta, Álvarez-Sauco, María, Vela, Lydia, Escalante, Sonia, Cubo, Esther, Mendoza, Zebenzui, Martínez-Castrillo, J. C., Sánchez Alonso, Pilar, Alonso Losada, María G., López-Ariztegui, Nuria, Gastón, Itziar, Kulisevsky, Jaime, Seijo, Manuel, Valero, Caridad, Alonso Redondo, Rubén, Buongiorno, Maria Teresa, Ordás, Carlos, Menéndez-González, Manuel, McAfee, Darrian, Martínez-Martín, Pablo, Mir, Pablo, COPPADIS Study Group, Ministerio de Economía y Competitividad (España), Instituto de Salud Carlos III, Junta de Andalucía, European Commission, Fundación Alimerka, Sociedad Andaluza de Neurología, Jacques and Gloria Gossweiler Foundation, Fundación Alicia Koplowitz, Fundación Mutua Madrileña, Santos-García, Diego, Deus Fonticoba, T. de, Cores Bartolomé, Carlos, Feal Painceiras, María J., García Díaz, Iago, Íñiguez-Alvarado, María Cristina, Paz, José Manuel, Jesús Maestre, Silvia, Cosgaya, Marina, García Caldentey, Juan, Caballol, Nuria, Legarda, Inés, Hernández-Vara, Jorge, Cabo, Iria, López-Manzanares, Lydia, González-Aramburu, Isabel, Ávila-Rivera, María A., Gómez Mayordomo, Víctor, Nogueira, Víctor, Dotor, Julio, Borrué, Carmen, Solano Vila, Berta, Álvarez-Sauco, María, Vela, Lydia, Escalante, Sonia, Cubo, Esther, Mendoza, Zebenzui, Martínez-Castrillo, J. C., Sánchez Alonso, Pilar, Alonso Losada, María G., López-Ariztegui, Nuria, Gastón, Itziar, Kulisevsky, Jaime, Seijo, Manuel, Valero, Caridad, Alonso Redondo, Rubén, Buongiorno, Maria Teresa, Ordás, Carlos, Menéndez-González, Manuel, McAfee, Darrian, Martínez-Martín, Pablo, Mir, Pablo, and COPPADIS Study Group
- Abstract
[Background and objective] Recently, we demonstrated that staging Parkinson's disease (PD) with a novel simple classification called MNCD, based on four axes (motor, non-motor, cognition, and dependency) and five stages, correlated with disease severity and patients’ quality of life. Here, we analyzed the correlation of MNCD staging with PD caregiver's status., [Patients and methods] Data from the baseline visit of PD patients and their principal caregiver recruited from 35 centers in Spain from the COPPADIS cohort from January 2016 to November 2017 were used to apply the MNCD total score (from 0 to 12) and MNCD stages (from 1 to 5) in this cross-sectional analysis. Caregivers completed the Zarit Caregiver Burden Inventory (ZCBI), Caregiver Strain Index (CSI), Beck Depression Inventory-II (BDI-II), PQ-10, and EUROHIS-QOL 8-item index (EUROHIS-QOL8)., [Results] Two hundred and twenty-four PD patients (63 ± 9.6 years old; 61.2% males) and their caregivers (58.5 ± 12.1 years old; 67.9% females) were included. The frequency of MNCD stages was 1, 7.6%; 2, 58.9%; 3, 31.3%; and 4–5, 2.2%. A more advanced MNCD stage was associated with a higher score on the ZCBI (p < .0001) and CSI (p < .0001), and a lower score on the PQ-10 (p = .001), but no significant differences were observed in the BDI-II (p = .310) and EUROHIS-QOL8 (p = .133). Moderate correlations were observed between the MNCD total score and the ZCBI (r = .496; p < .0001), CSI (r = .433; p < .0001), and BDI-II (r = .306; p < .0001) in caregivers., [Conclusion] Staging PD according to the MNCD classification is correlated with caregivers’ strain and burden.
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- 2023
8. Cognitive impairment and dementia in young onset Parkinson’s disease
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Fundación Degén, Alpha Bioresearch, Ministerio de Economía y Competitividad (España), Instituto de Salud Carlos III, Santos-García, Diego, Deus Fonticoba, T. de, Cores Bartolomé, Carlos, Feal Painceiras, María J., García Díaz, Iago, Íñiguez-Alvarado, María Cristina, Paz, José Manuel, Jesús Maestre, Silvia, Cosgaya, Marina, García Caldentey, Juan, Caballol, Nuria, Legarda, Inés, Hernández-Vara, Jorge, Cabo, Iria, López-Manzanares, Lydia, González-Aramburu, Isabel, Ávila-Rivera, María A., Gómez Mayordomo, Víctor, Nogueira, Víctor, Dotor, Julio, Borrué, Carmen, Solano Vila, Berta, Álvarez-Sauco, María, Vela, Lydia, Escalante, Sonia, Cubo, Esther, Mendoza, Zebenzui, Martínez-Castrillo, J. C., Sánchez Alonso, Pilar, Alonso Losada, María G., López-Ariztegui, Nuria, Gastón, Itziar, Kulisevsky, Jaime, Seijo, Manuel, Valero, Caridad, Alonso Redondo, Rubén, Buongiorno, Maria Teresa, Ordás, Carlos, Menéndez-González, Manuel, McAfee, Darrian, Martínez-Martín, Pablo, Mir, Pablo, COPPADIS Study Group, Fundación Degén, Alpha Bioresearch, Ministerio de Economía y Competitividad (España), Instituto de Salud Carlos III, Santos-García, Diego, Deus Fonticoba, T. de, Cores Bartolomé, Carlos, Feal Painceiras, María J., García Díaz, Iago, Íñiguez-Alvarado, María Cristina, Paz, José Manuel, Jesús Maestre, Silvia, Cosgaya, Marina, García Caldentey, Juan, Caballol, Nuria, Legarda, Inés, Hernández-Vara, Jorge, Cabo, Iria, López-Manzanares, Lydia, González-Aramburu, Isabel, Ávila-Rivera, María A., Gómez Mayordomo, Víctor, Nogueira, Víctor, Dotor, Julio, Borrué, Carmen, Solano Vila, Berta, Álvarez-Sauco, María, Vela, Lydia, Escalante, Sonia, Cubo, Esther, Mendoza, Zebenzui, Martínez-Castrillo, J. C., Sánchez Alonso, Pilar, Alonso Losada, María G., López-Ariztegui, Nuria, Gastón, Itziar, Kulisevsky, Jaime, Seijo, Manuel, Valero, Caridad, Alonso Redondo, Rubén, Buongiorno, Maria Teresa, Ordás, Carlos, Menéndez-González, Manuel, McAfee, Darrian, Martínez-Martín, Pablo, Mir, Pablo, and COPPADIS Study Group
- Abstract
[Background and objective] Patients with young-onset Parkinson’s disease (YOPD) have a slower progression. Our aim was to analyze the change in cognitive function in YOPD compared to patients with a later onset and controls., [Patients and methods] Patients with Parkinson’s disease (PD) and controls from the COPPADIS cohort were included. Cognitive function was assessed with the Parkinson’s Disease Cognitive Rating Scale (PD-CRS) at baseline (V0), 2-year ± 1 month (V2y), and 4-year ± 3 months follow-up (V4y). Regarding age from symptoms onset, patients were classified as YOPD (< 50 years) or non-YOPD (≥ 50). A score in the PD-CRS < 81 was defined as cognitive impairment (CI): ≤ 64 dementia; 65–80 mild cognitive impairment (MCI)., [Results] One-hundred and twenty-four YOPD (50.7 ± 7.9 years; 66.1% males), 234 non-YOPD (67.8 ± 7.8 years; 59.3% males) patients, and 205 controls (61 ± 8.3 years; 49.5% males) were included. The score on the PD-CRS and its subscore domains was higher at all visits in YOPD compared to non-YOPD patients and to controls (p < 0.0001 in all analysis), but no differences were detected between YOPD patients and controls. Only non-YOPD patients had significant impairment in their cognitive function from V0 to V4y (p < 0.0001). At V4y, the frequency of dementia and MCI was 5% and 10% in YOPD compared to 25.2% and 22.3% in non-YOPD patients (p < 0.0001). A lower score on the Parkinson’s Disease Sleep Scale at baseline was a predictor of CI at V4y in YOPD patients (Adjusted R2 = 0.61; OR = 0.965; p = 0.029)., [Conclusion] Cognitive dysfunction progressed more slowly in YOPD than in non-YOPD patients.
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- 2023
9. Changes in Principal Caregiver Mood Affects the Mood of the Parkinson’s Disease Patient: The Vicious Cycle of Illness
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Fundación Degen, Alpha Bioresearch, Ministerio de Economía y Competitividad (España), Instituto de Salud Carlos III, Santos-García, Diego, Deus Fonticoba, T. de, Cores Bartolomé, Carlos, Feal Painceiras, María J., Íñiguez-Alvarado, María Cristina, García Díaz, Iago, Jesús Maestre, Silvia, Buongiorno, Maria Teresa, Planellas, Lluís, Cosgaya, Marina, García Caldentey, Juan, Caballol, Nuria, Legarda, Inés, Hernández-Vara, Jorge, Cabo, Iria, López-Manzanares, Lydia, González-Aramburu, Isabel, Ávila-Rivera, María A., Gómez Mayordomo, Víctor, Nogueira, Víctor, Puente, Víctor, Dotor, Julio, Borrué, Carmen, Solano Vila, Berta, Álvarez-Sauco, María, Vela, Lydia, Escalante, Sonia, Cubo, Esther, Carrillo Padilla, Francisco, Martínez-Castrillo, J. C., Sánchez Alonso, Pilar, Alonso Losada, María G., López-Ariztegui, Nuria, Gastón, Itziar, Kulisevsky, Jaime, Menéndez-González, Manuel, Seijo, Manuel, Ruiz Martínez, Javier, Valero, Caridad, Kurtis, Mónica, González Ardura, Jessica, Alonso Redondo, Rubén, Ordás, Carlos, López-Díaz, Luis M., McAfee, Darrian, Martínez-Martín, Pablo, Mir, Pablo, COPPADIS Study Group, Fundación Degen, Alpha Bioresearch, Ministerio de Economía y Competitividad (España), Instituto de Salud Carlos III, Santos-García, Diego, Deus Fonticoba, T. de, Cores Bartolomé, Carlos, Feal Painceiras, María J., Íñiguez-Alvarado, María Cristina, García Díaz, Iago, Jesús Maestre, Silvia, Buongiorno, Maria Teresa, Planellas, Lluís, Cosgaya, Marina, García Caldentey, Juan, Caballol, Nuria, Legarda, Inés, Hernández-Vara, Jorge, Cabo, Iria, López-Manzanares, Lydia, González-Aramburu, Isabel, Ávila-Rivera, María A., Gómez Mayordomo, Víctor, Nogueira, Víctor, Puente, Víctor, Dotor, Julio, Borrué, Carmen, Solano Vila, Berta, Álvarez-Sauco, María, Vela, Lydia, Escalante, Sonia, Cubo, Esther, Carrillo Padilla, Francisco, Martínez-Castrillo, J. C., Sánchez Alonso, Pilar, Alonso Losada, María G., López-Ariztegui, Nuria, Gastón, Itziar, Kulisevsky, Jaime, Menéndez-González, Manuel, Seijo, Manuel, Ruiz Martínez, Javier, Valero, Caridad, Kurtis, Mónica, González Ardura, Jessica, Alonso Redondo, Rubén, Ordás, Carlos, López-Díaz, Luis M., McAfee, Darrian, Martínez-Martín, Pablo, Mir, Pablo, and COPPADIS Study Group
- Abstract
Background: Although many studies have analyzed what factors contribute to caregiver burden in Parkinson’s disease (PD), there is currently no knowledge about how the status of the caregiver could impact the patient., Objective: The aim of this study was to analyze how the change in the caregiver’s status influences PD patients., Methods: PD patients and their caregivers who were recruited from January/2016 to November/2017 from 35 centers in Spain from the COPPADIS cohort were included in the study (V0). They were evaluated again at 2-year follow-up (V2). Caregivers completed the Zarit Caregiver Burden Inventory (ZCBI), Caregiver Strain Index (CSI), Beck Depression Inventory-II (BDI-II), and EUROHIS-QOL 8-item index (EUROHIS-QOL8) at V0 and V2. Multivariate models were used to analyze the impact of the change from V0 to V2 () on the caregiver’s status over the change in the patient’s status., Results: BDI-II and EUROHIS-QOL8 in the caregiver predicted BDI-II ( = 0.32; p < 0.0001; R2 = 0.71) and EUROHIS-QOL8 ( = 0.39; p < 0.0001; R2 = 0.68) in the patient, respectively. Variables related to the caregiver were not associated with changes in the patient´s health-related QoL (PDQ-39 [39-item Parkinson’s disease Questionnaire]) or autonomy for activities of daily-living (ADLS [Schwab & England Activities of Daily Living Scale])., Conclusion: The change in the caregiver’s mood and global QoL was associated with the change in the patient’s mood and global QoL, respectively, independently of other variables of the disease influencing both patient´s aspects. Based on this finding, it could be of great importance to detect depression in the principal caregiver of a patient and act on it as earlier as possible.
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- 2023
10. Prevalence and Factors Associated with Drooling in Parkinson’s Disease: Results from a Longitudinal Prospective Cohort and Comparison with a Control Group
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Fundación Degen, Alpha Bioresearch, Ministerio de Economía y Competitividad (España), Instituto de Salud Carlos III, Santos-García, Diego, Deus Fonticoba, T. de, Cores Bartolomé, Carlos, Feal Painceiras, María J., Íñiguez-Alvarado, María Cristina, Jesús Maestre, Silvia, Buongiorno, Maria Teresa, Planellas, Lluís, Cosgaya, Marina, García Caldentey, Juan, Caballol, Nuria, Legarda, Inés, Hernández-Vara, Jorge, Cabo, Iria, López-Manzanares, Lydia, González-Aramburu, Isabel, Ávila-Rivera, María A., Gómez Mayordomo, Víctor, Nogueira, Víctor, Puente, Víctor, Dotor, Julio, Borrué, Carmen, Solano Vila, Berta, Álvarez-Sauco, María, Vela, Lydia, Escalante, Sonia, Cubo, Esther, Carrillo Padilla, Francisco, Martínez-Castrillo, J. C., Sánchez Alonso, Pilar, Alonso Losada, María G., López-Ariztegui, Nuria, Gastón, Itziar, Kulisevsky, Jaime, Blázquez-Estrada, Marta, Seijo, Manuel, Ruiz Martínez, Javier, Valero, Caridad, Kurtis, Mónica, Fábregues-Boixar, Oriol de, González Ardura, Jessica, Alonso Redondo, Rubén, Ordás, Carlos, López-Díaz, Luis M., McAfee, Darrian, Martínez-Martín, Pablo, Mir, Pablo, Study Group COPPADIS, Fundación Degen, Alpha Bioresearch, Ministerio de Economía y Competitividad (España), Instituto de Salud Carlos III, Santos-García, Diego, Deus Fonticoba, T. de, Cores Bartolomé, Carlos, Feal Painceiras, María J., Íñiguez-Alvarado, María Cristina, Jesús Maestre, Silvia, Buongiorno, Maria Teresa, Planellas, Lluís, Cosgaya, Marina, García Caldentey, Juan, Caballol, Nuria, Legarda, Inés, Hernández-Vara, Jorge, Cabo, Iria, López-Manzanares, Lydia, González-Aramburu, Isabel, Ávila-Rivera, María A., Gómez Mayordomo, Víctor, Nogueira, Víctor, Puente, Víctor, Dotor, Julio, Borrué, Carmen, Solano Vila, Berta, Álvarez-Sauco, María, Vela, Lydia, Escalante, Sonia, Cubo, Esther, Carrillo Padilla, Francisco, Martínez-Castrillo, J. C., Sánchez Alonso, Pilar, Alonso Losada, María G., López-Ariztegui, Nuria, Gastón, Itziar, Kulisevsky, Jaime, Blázquez-Estrada, Marta, Seijo, Manuel, Ruiz Martínez, Javier, Valero, Caridad, Kurtis, Mónica, Fábregues-Boixar, Oriol de, González Ardura, Jessica, Alonso Redondo, Rubén, Ordás, Carlos, López-Díaz, Luis M., McAfee, Darrian, Martínez-Martín, Pablo, Mir, Pablo, and Study Group COPPADIS
- Abstract
Introduction. Drooling in Parkinson’s disease (PD) is frequent but often goes underrecognized. Our aim was to examine the prevalence of drooling in a PD cohort and compare it with a control group. Specifcally, we identifed factors associated with drooling and conducted subanalyses in a subgroup of very early PD patients. Patients and Methods. PD patients who were recruited from January 2016 to November 2017 (baseline visit; V0) and evaluated again at a 2-year ± 30-day follow-up (V2) from 35 centers in Spain from the COPPADIS cohort were included in this longitudinal prospective study. Subjects were classifed as with or without drooling according to item 19 of the NMSS (Nonmotor Symptoms Scale) at V0, V1 (1-year ± 15 days), and V2 for patients and at V0 and V2 for controls. Results. Te frequency of drooling in PD patients was 40.1% (277/691) at V0 (2.4% (5/201) in controls; p < 0.0001), 43.7% (264/604) at V1, and 48.2% (242/502) at V2 (3.2% (4/124) in controls; p < 0.0001), with a period prevalence of 63.6% (306/481). Being older (OR = 1.032; p = 0.012), being male (OR = 2.333; p < 0.0001), having greater nonmotor symptom (NMS) burden at the baseline (NMSS total score at V0; OR = 1.020; p < 0.0001), and having a greater increase in the NMS burden from V0 to V2 (change in the NMSS total score from V0 to V2; OR = 1.012; p < 0.0001) were identifed as independent predictors of drooling after the 2-year follow-up. Similar results were observed in the group of patients with ≤2 years since symptom onset, with a cumulative prevalence of 64.6% and a higher score on the UPDRS-III at V0 (OR = 1.121; p = 0.007) as a predictor of drooling at V2. Conclusion. Drooling is frequent in PD patients even at the initial onset of the disease and is associated with a greater motor severity and NMS burden.
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- 2023
11. Parkinson's Disease Motor Subtypes Change with the Progression of the Disease: Results from the COPPADIS Cohort at 2-Year Follow-Up
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Santos-García, Diego, Canfield, Hector, Deus Fonticoba, T. de, Cores Bartolomé, Carlos, Naya Ríos, Lucía, García Roca, Lucía, Martínez Miró, Cristina, Jesús Maestre, Silvia, Aguilar, Miquel, Pastor, Pau, Cosgaya, Marina, García Caldentey, Juan, Caballol, Nuria, Legarda, Inés, Hernández-Vara, Jorge, Cabo, Iria, López-Manzanares, Lydia, González-Aramburu, Isabel, Ávila-Rivera, María A., Gómez Mayordomo, Víctor, Nogueira, Víctor, Puente, Víctor, Dotor, Julio, Borrué, Carmen, Solano Vila, Berta, Álvarez-Sauco, María, Vela, Lydia, Escalante, Sonia, Cubo, Esther, Carrillo Padilla, Francisco, Martínez-Castrillo, J. C., Sánchez Alonso, Pilar, Alonso Losada, María G., López-Ariztegui, Nuria, Gastón, Itziar, Kulisevsky, Jaime, Blázquez-Estrada, Marta, Seijo, Manuel, Ruiz Martínez, Javier, Valero, Caridad, Kurtis, Mónica, Fábregues-Boixar, Oriol de, González Ardura, Jessica, Alonso Redondo, Rubén, Ordás, Carlos, López-Díaz, Luis M., McAfee, Darrian, Martínez-Martín, Pablo, Mir, Pablo, COPPADIS Study Group, Santos-García, Diego, Canfield, Hector, Deus Fonticoba, T. de, Cores Bartolomé, Carlos, Naya Ríos, Lucía, García Roca, Lucía, Martínez Miró, Cristina, Jesús Maestre, Silvia, Aguilar, Miquel, Pastor, Pau, Cosgaya, Marina, García Caldentey, Juan, Caballol, Nuria, Legarda, Inés, Hernández-Vara, Jorge, Cabo, Iria, López-Manzanares, Lydia, González-Aramburu, Isabel, Ávila-Rivera, María A., Gómez Mayordomo, Víctor, Nogueira, Víctor, Puente, Víctor, Dotor, Julio, Borrué, Carmen, Solano Vila, Berta, Álvarez-Sauco, María, Vela, Lydia, Escalante, Sonia, Cubo, Esther, Carrillo Padilla, Francisco, Martínez-Castrillo, J. C., Sánchez Alonso, Pilar, Alonso Losada, María G., López-Ariztegui, Nuria, Gastón, Itziar, Kulisevsky, Jaime, Blázquez-Estrada, Marta, Seijo, Manuel, Ruiz Martínez, Javier, Valero, Caridad, Kurtis, Mónica, Fábregues-Boixar, Oriol de, González Ardura, Jessica, Alonso Redondo, Rubén, Ordás, Carlos, López-Díaz, Luis M., McAfee, Darrian, Martínez-Martín, Pablo, Mir, Pablo, and COPPADIS Study Group
- Abstract
[Background] Motor phenotype (MP) can be associated with a different prognosis in Parkinson's disease (PD), but it is not fixed and can change over time., [Objective] Our aim was to analyze how the MP changed over time and to identify factors associated with the changes in PD patients from a multicenter Spanish PD cohort., [Methods] PD patients who were recruited from January-2016 to November-2017 (baseline visit; V0) and evaluated again at a 2-year±30 days follow-up (V2) from 35 centers of Spain from the COPPADIS cohort, were included in this study.MP was calculated at both visits based on Jankovic classification in TD (tremor dominant), IND (indeterminate), or PIGD (postural instability and gait difficulty). Sociodemographic and clinical data were collected, including serum biomarkers., [Results] Five hundred eleven patients (62.57±8.59 years old; 59.2%males) were included in the study. At V0, MP was: 47.4%(242/511) TD; 36.6%(187/511) PIGD; 16%(82/511) IND. Up to 38%(194/511) of the patients changed their phenotype from V0 to V2, being the most frequent from TD to IND (8.4%) and from TD to PIGD (6.7%). A worse cognitive status (OR = 0.966) and less autonomy for activities of daily living (OR = 0.937) at V0 and a greater increase in the globalNMS burden (OR = 1.011) from V0 to V2 were associated with changing from TD to another phenotype after 2-year follow-up., [Conclusion] The MP in PD can change over time. With disease progression, the percentage of cases with non-tremoric MP increases. PD patients who changed from TD to postural instability and gait difficulty increased NMS burden significantly.
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- 2022
12. MNCD: A New Tool for Classifying Parkinson's Disease in Daily Clinical Practice
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AbbVie Pharmaceuticals, Santos-García, Diego, Álvarez-Sauco, María, Calopa, Matilde, Carrillo, Fátima, Escamilla-Sevilla, Francisco, Freire, Eric, García-Ramos, Rocío, Kulisevsky, Jaime, Gómez Esteban, Juan Carlos, Legarda, Inés, Luquín, María Rosario Isabel, Martínez-Castrillo, J. C., Martínez-Martín, Pablo, Martínez Torres, Irene, Mir, Pablo, Sesar Ignacio, Ángel, AbbVie Pharmaceuticals, Santos-García, Diego, Álvarez-Sauco, María, Calopa, Matilde, Carrillo, Fátima, Escamilla-Sevilla, Francisco, Freire, Eric, García-Ramos, Rocío, Kulisevsky, Jaime, Gómez Esteban, Juan Carlos, Legarda, Inés, Luquín, María Rosario Isabel, Martínez-Castrillo, J. C., Martínez-Martín, Pablo, Martínez Torres, Irene, Mir, Pablo, and Sesar Ignacio, Ángel
- Abstract
[Background and objective] Parkinson's disease (PD) is a clinically heterogeneous disorder in which the symptoms and prognosis can be very different among patients. We propose a new simple classification to identify key symptoms and staging in PD., [Patients and Methods] Sixteen movement disorders specialists from Spain participated in this project. The classification was consensually approved after a discussion and review process from June to October 2021. The TNM classification and the National Institutes of Health Stroke Scale (NIHSS) were considered as models in the design., [Results] The classification was named MNCD and included 4 major axes: (1) motor symptoms; (2) non-motor symptoms; (3) cognition; (4) dependency for activities of daily living (ADL). Motor axis included 4 sub-axes: (1) motor fluctuations; (2) dyskinesia; (3) axial symptoms; (4) tremor. Four other sub-axes were included in the non-motor axis: (1) neuropsychiatric symptoms; (2) autonomic dysfunction; (3) sleep disturbances and fatigue; (4) pain and sensory disorders. According to the MNCD, 5 stages were considered, from stage 1 (no disabling motor or non-motor symptoms with normal cognition and independency for ADL) to 5 (dementia and dependency for basic ADL)., [Conclusions] A new simple classification of PD is proposed. The MNCD classification includes 4 major axes and 5 stages to identify key symptoms and monitor the evolution of the disease in patients with PD. It is necessary to apply this proof of concept in a properly designed study.
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- 2022
13. Increased homocysteine levels correlate with cortical structural damage in Parkinson's disease
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Centres de Recerca de Catalunya, Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas (España), Fundació La Marató de TV3, Instituto de Salud Carlos III, European Commission, Universidad de Sevilla, Sampedro, Frederic, Martínez-Horta, Saúl, Horta-Barba, Andrea, Grothe, Michel J., Labrador, Miguel Ángel, Jesús Maestre, Silvia, Adarmes Gómez, A. D., Carrillo, Fátima, Puig-Davi, Arnau, Roldán, Florinda, Aguilar Barberá, Miquel, Pastor, Pau, Escalante, Sonia, Solano Vila, Berta, Cots Foraster, Ana, Ruiz Martínez, Javier, Carrillo Padilla, Francisco, Pueyo Morlans, Mercedes, González-Aramburu, Isabel, Infante, Jon, Hernández-Vara, Jorge, Fábregues-Boixar, Oriol de, Deus Fonticoba, T. de, Ávila, Asunción, Martínez-Castrillo, J. C., Bejr-Kasem, Helena, Campolongo, Antonia, Pascual-Sedano, Berta, COPPADIS Study Group, Martínez-Martín, Pablo, Santos-García, Diego, Mir, Pablo, Kulisevsky, Jaime, Centres de Recerca de Catalunya, Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas (España), Fundació La Marató de TV3, Instituto de Salud Carlos III, European Commission, Universidad de Sevilla, Sampedro, Frederic, Martínez-Horta, Saúl, Horta-Barba, Andrea, Grothe, Michel J., Labrador, Miguel Ángel, Jesús Maestre, Silvia, Adarmes Gómez, A. D., Carrillo, Fátima, Puig-Davi, Arnau, Roldán, Florinda, Aguilar Barberá, Miquel, Pastor, Pau, Escalante, Sonia, Solano Vila, Berta, Cots Foraster, Ana, Ruiz Martínez, Javier, Carrillo Padilla, Francisco, Pueyo Morlans, Mercedes, González-Aramburu, Isabel, Infante, Jon, Hernández-Vara, Jorge, Fábregues-Boixar, Oriol de, Deus Fonticoba, T. de, Ávila, Asunción, Martínez-Castrillo, J. C., Bejr-Kasem, Helena, Campolongo, Antonia, Pascual-Sedano, Berta, COPPADIS Study Group, Martínez-Martín, Pablo, Santos-García, Diego, Mir, Pablo, and Kulisevsky, Jaime
- Abstract
[Background] Blood homocysteine appears to be increased in Parkinson's disease (PD) and may play a role in the development and progression of this disorder. However, the specific contribution of abnormal homocysteine levels to cortical degeneration in PD remains elusive., [Objective] To characterize the cortical structural correlates of homocysteine levels in PD., [Methods] From the COPPADIS cohort, we identified a subset of PD patients and healthy controls (HC) with available homocysteine and imaging data. Surface-based vertex-wise multiple regression analyses were performed to investigate the cortical macrostructural (cortical thinning) and microstructural (increased intracortical diffusivity) correlates of homocysteine levels in this sample., [Results] A total of 137 PD patients and 43 HC were included. Homocysteine levels were increased in the PD group (t = −2.2, p = 0.03), correlating in turn with cognitive performance (r = −0.2, p = 0.03). Homocysteine in PD was also associated with frontal cortical thinning and, in a subset of patients with available DTI data, with microstructural damage in frontal and posterior-cortical regions (p < 0.05 Monte-Carlo corrected)., [Conclusions] Homocysteine in PD appears to be associated with cognitive performance and structural damage in the cerebral cortex. These findings not only reinforce the presence and importance of cortical degeneration in PD, but also suggest that homocysteine plays a role among the multiple pathological processes thought to be involved in its development.
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- 2022
14. Predictors of the change in burden, strain, mood, and quality of life among caregivers of Parkinson's disease patients
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Santos-García, Diego, Deus Fonticoba, T. de, Cores Bartolomé, Carlos, Íñiguez Alvarado, María Cristina, Feal Panceiras, M. J., Suárez Castro, Ester, Canfield, Héctor, Martínez Miró, Cristina, Jesús, Silvia, Aguilar, Miquel, Pastor, Pau, Planellas, Lluís, Cosgaya, Marina, García Caldentey, Juan, Caballol, Nuria, Legarda, Ines, Hernández-Vara, Jorge, Cabo, Iria, López-Manzanares, Lydia, González-Aramburu, Isabel, Ávila-Rivera, María A., Gómez Mayordomo, Víctor, Nogueira, Víctor, Puente, Víctor, Dotor García-Soto, Julio, Borrué, Carmen, Solano Vila, Berta, Álvarez-Sauco, María, Vela, Lydia, Escalante, Sonia, Cubo, Esther, Carrillo Padilla, Francisco, Martínez-Castrillo, J. C., Sánchez Alonso, Pilar, Alonso Losada, María G., López-Ariztegui, Nuria, Gastón, Itziar, Kulisevsky, Jaime, Blázquez-Estrada, Marta, Seijo, Manuel, Ruiz Martínez, Javier, Valero, Caridad, Kurtis, Mónica, Fábregues-Boixar, Oriol de, González Ardura, Jessica, Alonso Redondo, Rubén, Ordás, Carlos, López-Díaz, Luis M., McAfee, Darrian, Martínez-Martín, Pablo, Mir, Pablo, COPPADIS Study Group, AbbVie Pharmaceuticals, UCB Pharma, Lundbeck, Krka Farmacéutica, Zambon, BIAL Foundation, Italfarmaco, Teva Pharmaceutical Industries, Merz Pharma, Instituto de Salud Carlos III, Junta de Andalucía, Qualigen, Nutricia Foundation, Sanofi, Merck & Co, Allergan Foundation, Roche, Novartis, International Parkinson and Movement Disorder Society, Ipsen, Exeltis, Fundació La Marató de TV3, Daiichi-Sankyo, Sociedad Española de Neurología, Esteve, Psyma Ibérica, Abbott Laboratories, European Commission, Jacques and Gloria Gossweiler Foundation, Fundación Alicia Koplowitz, Fundación Mutua Madrileña, and Santos-García, Diego
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Psychiatry and Mental health ,strain ,mood ,Parkinson's disease ,Mood ,Burden ,Geriatrics and Gerontology ,Caregiver ,caregiver ,Strain ,burden - Abstract
[Background and Objective] Caregiver burden in Parkinson's disease (PD) has been studied in many cross-sectional studies but poorly in longitudinal ones. The aim of the present study was to analyze the change in burden, strain, mood, and quality of life (QoL) after a 2-year follow-up in a cohort of caregivers of patients with PD and also to identify predictors of these changes., [Patients and Methods] PD patients and their caregivers who were recruited from January/2016 to November/2017 from 35 centers of Spain from the COPPADIS cohort were included in the study. They were evaluated again at 2-year follow-up. Caregivers completed the Zarit Caregiver Burden Inventory (ZCBI), Caregiver Strain Index (CSI), Beck Depression Inventory-II (BDI-II), and EUROHIS-QOL 8-item index (EUROHIS-QOL8) at baseline (V0) and at 2-year follow-up (V2). General linear model repeated measure and lineal regression models were applied., [Results] Significant changes, indicating an impairment, were detected on the total score of the ZCBI (p < 0.0001), CSI (p < 0.0001), BDI-II (p = 0.024), and EUROHIS-QOL8 (p = 0.002) in 192 PD caregivers (58.82 ± 11.71 years old; 69.3% were females). Mood impairment (BDI-II; β = 0.652; p < 0.0001) in patients from V0 to V2 was the strongest factor associated with caregiver's mood impairment after the 2-year follow-up. Caregiver's mood impairment was the strongest factor associated with an increase from V0 to V2 on the total score of the ZCBI (β = 0.416; p < 0.0001), CSI (β = 0.277; p = 0.001), and EUROHIS-QOL (β = 0.397; p = 0.002)., [Conclusion] Burden, strain, mood, and QoL were impaired in caregivers of PD patients after a 2-year follow-up. Mood changes in both the patient and the caregiver are key aspects related to caregiver burden increase., Santos García D. has received honoraria for educational presentations and advice service by Abbvie, UCB Pharma, Lundbeck, KRKA, Zambon, Bial, Italfarmaco, and Teva. De Deus Fonticoba T.: None. Cores Bartolomé C. has received honoraria for educational presentations and advice service by Lundbeck and UCB Pharma. Íñiguez Alvarado MC: None. Feal Painceiras M. J.: None. Martínez Miró C.: None. Suárez Castro E.: None. Canfield H.: None. Jesús S. has received honoraria from AbbVie, Bial, Merz, UCB, and Zambon and holds the competitive contract “Juan Rodés” supported by the Instituto de Salud Carlos III. She has received grants from the Spanish Ministry of Economy and Competitiveness (PI18/01898) and the Consejería de Salud de la Junta de Andalucía (PI-0459-2018). Aguilar M.: UCB and Schwabe with assistance to a Congress; Nutricia with assistance to a Congress and payment of lecture. Pastor P.: None. Planellas LL.: None. Cosgaya M.: None. García Caldentey J. has received honoraria for educational presentations and advice service by Qualigen, Nutricia, Abbvie, Italfarmaco, UCB Pharma, Lundbeck, Zambon, Bial, and Teva. Caballol N. has received honoraria from Bial, Italfármaco, Qualigen, Zambon, UCB, Teva and KRKA and sponsorship from Zambon, TEVA and Abbvie for attending medical conferences. Legarda I. has received honoraria for educational presentations and advice service by Abbvie, UCB Pharma, Zambon, Bial, and Teva. Hernández Vara J. has received travel bursaries and educational grants from Abbvie and has received honoraria for educational presentations from Abbvie, Teva, Bial, Zambon, Italfarmaco, and Sanofi-Genzyme. Cabo I. has received honoraria for educational presentations and advice service by Abbvie, Zambon, and Bial. López Manzanares L.: Compensated advisory services, consulting, research grant support, or speaker honoraria: AbbVie, Acorda, Bial, Intec Pharma, Italfarmaco, Pfizer, Roche, Teva, UCB, and Zambon. González Aramburu I.: None. Ávila Rivera MA. has received honoraria from Zambon, UCB Pharma, Qualigen, Bial, and Teva, and sponsorship from Zambon and Teva for attending conferences. Gómez Mayordomo V.: None. Nogueira V.: None. Puente V. has served as consultant for Abbvie and Zambon; has received grant/research from Abbvie. Dotor García-Soto J.: Compensated advisory services, consulting, research grant support, or speaker honoraria: Merck, Sanofi-Genzyme, Allergan, Biogen, Roche, UCB and Novartis. Borrué C.: None. Solano Vila B. has received honoraria for educational presentations and advice service by UCB, Zambon, Teva, Abbvie, Bial. Álvarez Sauco M. has received honoraria for educational presentations and advice service by Abbvie, UCB Pharma, Zambon, Bial, and Teva. Vela L. has received honoraria for educational presentations and advice service by Abbvie, UCB Pharma, Lundbeck, KRKA, Zambon, Bial, and Teva. Escalante S. has received honoraria for educational presentations and advice service by Abbvie, Zambon, and Bial. Cubo E.: Travel grants: Abbvie, Allergan, Boston; Lecturing honoraria: Abbvie, International Parkinson's disease Movement Disorder Society. Carrillo Padilla F. has received honoraria from Zambon (SEN Congress assistance). Martínez Castrillo JC. has received research support from Lundbeck, Italfarmaco, Allergan, Zambon, Merz, and Abbvie. He has received speaking honoraria from AbbVie, Bial, Italfarmaco, Lundbeck, Krka, TEVA, UCB, Zambon, Allergan, Ipsen, and Merz. Sánchez Alonso P. has received honoraria for educational presentations and advice service by Abbvie, UCB Pharma, Lundbeck, KRKA, Zambon, Bial, and Teva. Alonso Losada M. G. has received honoraria for educational presentations and advice service by Zambon and Bial. López Ariztegui N. has received honoraria for educational presentations and advice service by Abbvie, Italfarmaco, Zambon, and Bial. Gastón I. has received research support from Abbvie and Zambon and has served as a consultant for Abbvie, Exelts, and Zambon. Kulisevsky J.: (1) Consulting fees: Roche, Zambon; (2) Stock/allotment: No; (3) Patent royalties/licensing fees: No; (4) Honoraria (e.g. lecture fees): Zambon, Teva, Bial, UCB; (5) Fees for promotional materials: No; (6) Research funding: Roche, Zambon, Ciberned; Instituto de Salud Carlos III; FundacióLa Maratóde TV3; (7) Scholarship from corporation: No; (8) Corporate laboratory funding: No; (9) Others (e.g., trips, travel, or gifts): No. Blázquez Estrada M. has received honoraria for educational presentations and advice service by Abbvie, Abbott, UCB Pharma, Allergan, Zambon, Bial, and Qualigen. Seijo M. has received honoraria for educational services from KRKA, UCB, Zambon, Bial; travel grants from Daiichi and Roche. Ruiz Martínez J. has received honoraria for educational presentations, attending medical conferences, and advice service by Abbvie, UCB Pharma, Zambon, Italfarmaco, Bial, and Teva. Valero C. has received honoraria for educational services from Zambon, Abbvie and UCB. Kurtis M. has received honoraria from Bial, the Spanish Neurology Society, and the International and Movement Disorders Society. de Fábregues O. has received honoraria for educational presentations and advice service by Bial, Zambon, Abbvie, KRKA, and Teva. González Ardura J. has received honoraria for speking from italofarma, Krka, Genzyme, UCB, Esteve, Psyma iberica marketing research SL and Ferrer, course grant from Teva and travel grant from Merck. Alonso Redondo R.: None. Ordás C.: None. López Díaz L. M. has received honoraria from UCB, Lundbeck, and KRKA. McAfee D.: None. Martínez-Martin P. has received honoraria from National School of Public Health (ISCIII), Editorial Viguera and Takeda Pharmaceuticals for lecturing in courses, and from the International Parkinson and Movement Disorder Society (MDS) for management of the Program on Rating Scales. Mir P. has received honoraria from AbbVie, Abbott, Allergan, Bial, Merz, UCB, and Zambon and have received grants from the Spanish Ministry of Economy and Competitiveness [PI16/01575] co-founded by ISCIII (Subdirección General de Evaluación y Fomento de la Investigación) and by Fondo Europeo de Desarrollo Regional (FEDER), the Consejería de Economía, Innovación, Ciencia y Empleo de la Junta de Andalucía [CVI-02526, CTS-7685], the Consejería de Salud y Bienestar Social de la Junta de Andalucía [ PI-0437-2012, PI-0471-2013], the Sociedad Andaluza de Neurología, the Jacques and Gloria Gossweiler Foundation, the Fundación Alicia Koplowitz, the Fundación Mutua Madrileña.
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- 2022
15. Finding genetically-supported drug targets for Parkinson’s disease using Mendelian randomization of the druggable genome
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Storm, Catherine S., Kia, Demis A., Almramhi, Mona M., Bandres-Ciga, Sara, Finan, Chris, Noyce, A. J., Kaiyrzhanov, R., Middlehurst, B., Tan, M., Houlden, H., Morris, H. R., Plun-Favreau, H., Holmans, P., Hardy, J., Trabzuni, D., Quinn, J., Bubb, V., Mok, K. Y., Kinghorn, K. J., Lewis, P., Schreglmann, S. R., Lovering, R., R'Bibo, L., Manzoni, C., Rizig, M., Ryten, M., Guelfi, S., Escott-Price, V., Chelban, V., Foltynie, T., Williams, N., Morrison, K. E., Clarke, C., Harvey, K., Jacobs, B. M., Brice, Alexis, Danjou, F., Lesage, S., Corvol, J. C., Martinez, M., Schulte, C., Brockmann, K., Simón-Sánchez, J., Heutink, P., Rizzu, P., Sharma, M., Gasser, T., Schneider, S. A., Cookson, M. R., Blauwendraat, C., Craig, D. W., Billingsley, K., Makarious, M. B., Narendra, D. P., Faghri, F., Gibbs, J. R., Hernandez, D. G., Van Keuren-Jensen, K., Shulman, J. M., Iwaki, H., Leonard, H. L., Nalls, M. A., Robak, L., Bras, J., Guerreiro, R., Lubbe, S., Troycoco, T., Finkbeiner, S., Mencacci, N. E., Lungu, C., Singleton, A. B., Scholz, S. W., Reed, X., Uitti, R. J., Ross, O. A., Grenn, F. P., Moore, A., Alcalay, R. N., Wszolek, Z. K., Gan-Or, Z., Rouleau, G. A., Krohn, L., Mufti, K., van Hilten, J. J., Marinus, J., Adarmes-Gómez, A. D., Aguilar Barberà, Miquel, Álvarez Angulo, Iñaki, Alvarez, V., Barrero, F. J., Yarza, J. A. B., Bernal-Bernal, I., Blázquez Estrada, M, Bonilla-Toribio, M., Botía, J. A., Boungiorno, M. T., Buiza-Rueda, Dolores, Cámara, A., Carrillo, F., Carrión-Claro, M., Cerdan, D., Clarimón, Jordi, Compta, Y., Diez-Fairen, M., Dols-Icardo, Oriol, Duarte, J., Duran, R., Escamilla-Sevilla, F., Ezquerra, M., Feliz, C., Fernández, M., Fernández-Santiago, R., Garcia, C., García-Ruiz, P., Gómez-Garre, P., Heredia, M. J. G., Gonzalez-Aramburu, I., Pagola, A. G., Hoenicka, J., Infante, J., Jesús, S., Jimenez-Escrig, A., Kulisevsky, Jaime, Labrador-Espinosa, M. A., Lopez-Sendon, J. L., de Munain Arregui, A. L., Macias, D., Torres, I. M., Marín, J., Marti, M. J., Martínez-Castrillo, J. C., Méndez-del-Barrio, C., González, M. M., Mata, M., Mínguez, A., Mir, P., Rezola, E. M., Muñoz, E., Pagonabarraga, J., Pastor, P., Errazquin, F. P., Periñán-Tocino, T., Ruiz-Martínez, J., Ruz, C., Rodriguez, A. S., Sierra, M., Suarez-Sanmartin, E., Tabernero, C., Tartari, J. P., Tejera-Parrado, C., Tolosa, E., Valldeoriola, F., Vargas-González, L., Vela, Lydia, Vives, F., Zimprich, A., Pihlstrom, L., Toft, M., Taba, P., Koks, S., Hassin-Baer, S., Majamaa, K., Siitonen, A., Tienari, P., Okubadejo, N. U., Ojo, O. O., Shashkin, C., Zharkinbekova, N., Akhmetzhanov, V., Kaishybayeva, G., Karimova, A., Khaibullin, T., Lynch, T. L., Hingorani, Aroon, Wood, Nicholas W.., Universitat Autònoma de Barcelona, Rosetrees Trust, John Black Charitable Foundation, University College London, King Abdulaziz University, National Institute for Health Research (UK), Universidad de Cantabria, HUS Neurocenter, Department of Neurosciences, and Clinicum
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Aging ,Science ,Quantitative Trait Loci ,General Physics and Astronomy ,Neurodegenerative ,3124 Neurology and psychiatry ,General Biochemistry, Genetics and Molecular Biology ,Article ,Cohort Studies ,Risk Factors ,Genetics research ,Genetics ,2.1 Biological and endogenous factors ,Humans ,Genetic Predisposition to Disease ,Aetiology ,Multidisciplinary ,Genome ,Parkinson's Disease ,Genome, Human ,Prevention ,3112 Neurosciences ,Neurosciences ,Brain ,Genetic Variation ,Parkinson Disease ,General Chemistry ,Mendelian Randomization Analysis ,International Parkinson’s Disease Genomics Consortium ,Brain Disorders ,Good Health and Well Being ,Gene Expression Regulation ,Neurology ,5.1 Pharmaceuticals ,Case-Control Studies ,Neurological ,Disease Progression ,Development of treatments and therapeutic interventions ,Human ,Biotechnology - Abstract
Parkinson’s disease is a neurodegenerative movement disorder that currently has no disease-modifying treatment, partly owing to inefficiencies in drug target identification and validation. We use Mendelian randomization to investigate over 3,000 genes that encode druggable proteins and predict their efficacy as drug targets for Parkinson’s disease. We use expression and protein quantitative trait loci to mimic exposure to medications, and we examine the causal effect on Parkinson’s disease risk (in two large cohorts), age at onset and progression. We propose 23 drug-targeting mechanisms for Parkinson’s disease, including four possible drug repurposing opportunities and two drugs which may increase Parkinson’s disease risk. Of these, we put forward six drug targets with the strongest Mendelian randomization evidence. There is remarkably little overlap between our drug targets to reduce Parkinson’s disease risk versus progression, suggesting different molecular mechanisms. Drugs with genetic support are considerably more likely to succeed in clinical trials, and we provide compelling genetic evidence and an analysis pipeline to prioritise Parkinson’s disease drug development., There is currently no disease-modifying treatment for Parkinson’s disease, a common neurodegenerative disorder. Here, the authors use genetic variation associated with gene and protein expression to find putative drug targets for Parkinson’s disease using Mendelian randomization of the druggable genome.
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- 2021
16. Staging Parkinson's Disease Combining Motor and Nonmotor Symptoms Correlates with Disability and Quality of Life
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Santos García, Diego, Deus Fonticoba, María Teresa de, Paz González, J. M., Cores Bartolomé, C., Valdés Aymerich, L., Muñoz Enríquez, J. G., Suárez, E., Jesús, S., Aguilar Barberà, Miquel, Pastor, P., Planellas, L. L., Cosgaya, M., García Caldentey, J., Caballol, N., Legarda, I., Hernández-Vara, Jorge, Cabo, I., López Manzanares, L., González Aramburu, I., Ávila-Rivera, M. A, Catalán, M. J., Nogueira, V., Puente, V., García Moreno, José Manuel, Borrué, C., Solano Vila, B., Álvarez Sauco, M., Vela, Lydia, Escalante, S., Cubo, Esther, Carrillo Padilla, F., Martínez Castrillo, J. C., Sánchez Alonso, P., Alonso Losada, M. G., López Ariztegui, N., Gastón, I., Kulisevsky, Jaime, Blázquez Estrada, M., Seijo, M., Rúiz Martínez, J., Valero, C., Kurtis, M., Fàbregues-Boixar i Nebot, Oriol de, González Ardura, J., Ordás, C., López Díaz, L., Mir, P., Martinez-Martin, Pablo, COPPADIS Study Group, None, Universitat Autònoma de Barcelona, Institut Català de la Salut, [Santos García D, Paz González JM, Cores Bartolomé C, Valdés Aymerich L, Muñoz Enríquez JG] CHUAC, Complejo Hospitalario Universitario de A Coruña, A Coruña, Spain. [De Deus Fonticoba T] CHUF, Complejo Hospitalario Universitario de Ferrol, A Coruña, Spain. [Hernández Vara J, de Fábregues O] Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Universidad de Sevilla. Departamento de Medicina, [Santos Garcia, D.] Complejo Hosp Univ A Coruna, CHUAC, La Coruna, Spain, [Paz Gonzalez, J. M.] Complejo Hosp Univ A Coruna, CHUAC, La Coruna, Spain, [Cores Bartolome, C.] Complejo Hosp Univ A Coruna, CHUAC, La Coruna, Spain, [Valdes Aymerich, L.] Complejo Hosp Univ A Coruna, CHUAC, La Coruna, Spain, [Munoz Enriquez, J. G.] Complejo Hosp Univ A Coruna, CHUAC, La Coruna, Spain, [De Deus Fonticoba, T.] Complejo Hosp Univ Ferrol, CHUF, La Coruna, Spain, [Suarez, E.] Complejo Hosp Univ Ferrol, CHUF, La Coruna, Spain, [Jesus, S.] Univ Seville, Serv Neurol & Neurofisiol Clin, Unidad Trastornos Movimiento, Hosp Univ Virgen Rocio,CSIC,Inst Biomed Sevilla, Seville, Spain, [Mir, P.] Univ Seville, Serv Neurol & Neurofisiol Clin, Unidad Trastornos Movimiento, Hosp Univ Virgen Rocio,CSIC,Inst Biomed Sevilla, Seville, Spain, [Jesus, S.] Ctr Invest Biomed Red Enfermedades Neurodegnerat, CIBERNED, Madrid, Spain, [Gonzalez Aramburu, I.] Ctr Invest Biomed Red Enfermedades Neurodegnerat, CIBERNED, Madrid, Spain, [Kulisevsky, J.] Ctr Invest Biomed Red Enfermedades Neurodegnerat, CIBERNED, Madrid, Spain, [Mir, P.] Ctr Invest Biomed Red Enfermedades Neurodegnerat, CIBERNED, Madrid, Spain, [Martinez-Martin, P.] Ctr Invest Biomed Red Enfermedades Neurodegnerat, CIBERNED, Madrid, Spain, [Aguilar, M.] Hosp Univ Mutua Terrassa, Terrassa, Spain, [Pastor, P.] Hosp Univ Mutua Terrassa, Terrassa, Spain, [Planellas, L. L.] Hosp Clin Barcelona, Barcelona, Spain, [Cosgaya, M.] Hosp Clin Barcelona, Barcelona, Spain, [Garcia Caldentey, J.] Ctr Neurol Oms 42, Palma de Mallorca, Spain, [Caballol, N.] Hosp Moises Broggi, Consorci Sanitari Integral, Barcelona, Spain, [Legarda, I.] Hosp Univ Son Espases, Palma de Mallorca, Spain, [Hernandez Vara, J.] Hosp Univ Vall Hebron, Barcelona, Spain, [de Fabregues, O.] Hosp Univ Vall Hebron, Barcelona, Spain, [Cabo, I.] Complejo Hosp Univ Pontevedra CHOP, Pontevedra, Spain, [Seijo, M.] Complejo Hosp Univ Pontevedra CHOP, Pontevedra, Spain, [Lopez Manzanares, L.] Hosp Univ La Princesa, Madrid, Spain, [Gonzalez Aramburu, I.] Hosp Univ Marques Valdecilla, Santander, Spain, [Avila Rivera, M. A.] Hosp Gen Hosp, Consorci Sanitari Integral, Barcelona, Spain, [Catalan, M. J.] Hosp Univ Clin San Carlos, Madrid, Spain, [Nogueira, V.] Hosp Da Costa, Lugo, Spain, [Puente, V.] Hosp del Mar, Barcelona, Spain, [Garcia Moreno, J. M.] Hosp Univ Virgen Macarena, Seville, Spain, [Borrue, C.] Hosp Infanta Sofia, Madrid, Spain, [Solano Vila, B.] Inst Catala Salut, Inst Assistencia Sanitaria IAS, Girona, Spain, [Alvarez Sauco, M.] Hosp Gen Univ Elche, Elche, Spain, [Vela, L.] Fdn Hosp Alcorcon, Madrid, Spain, [Escalante, S.] Hosp Tortosa Verge Cinta IITVC, Tarragona, Spain, [Cubo, E.] Complejo Asistencial Univ Burgos, Burgos, Spain, [Carrillo Padilla, F.] Hosp Univ Canarias, San Cristobal De Laguna, Santa Cruz De T, Spain, [Martinez Castrillo, J. C.] Hosp Univ Ramon y Cajal, Madrid, Spain, [Sanchez Alonso, P.] Hosp Univ Puerta Hierro, Madrid, Spain, [Alonso Losada, M. G.] Complejo Hosp Univ Vigo CHUVI, Hosp Alvaro Cunqueiro, Vigo, Spain, [Lopez Ariztegui, N.] Complejo Hosp Toledo, Toledo, Spain, [Gaston, I.] Complejo Hosp Navarra, Pamplona, Spain, [Kulisevsky, J.] Hosp Santa Creu & Sant Pau, Barcelona, Spain, [Blazquez Estrada, M.] Hosp Univ Cent Asturias, Oviedo, Spain, [Ruiz Martinez, J.] Hosp Univ Donostia, San Sebastian, Spain, [Valero, C.] Hosp Arnau Vilanova, Valencia, Spain, [Kurtis, M.] Hosp Ruber Int, Madrid, Spain, [Gonzalez Ardura, J.] Hosp Univ Lucus Augusti HULA, Lugo, Spain, [Ordas, C.] Hosp Rey Juan Carlos, Madrid, Spain, [Lopez Diaz, L.] Complejo Hosp Univ Orense CHUO, Orense, Spain, and [COPPADIS Study Grp] Fdn Curemos Parkinson, C Juana Vega 23 2, La Coruna 15004, Spain
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medicine.medical_specialty ,Discapacitats ,Parkinson's disease ,Article Subject ,Degenerative Disorder ,Parkinson, Malaltia de - Prognosi ,Neuroscience (miscellaneous) ,Disease ,Stage ii ,personas::personas con discapacidad [DENOMINACIONES DE GRUPOS] ,Parkinson’s Disease ,03 medical and health sciences ,0302 clinical medicine ,Quality of life ,enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::enfermedades de los ganglios basales::trastornos parkinsonianos::enfermedad de Parkinson [ENFERMEDADES] ,Malaltia de Parkinson ,Internal medicine ,medicine ,Motor and nonmotor symptoms (NMS) ,Stage (cooking) ,RC346-429 ,030304 developmental biology ,ambiente y salud pública::salud pública::medidas epidemiológicas::demografía::estado de salud::calidad de vida [ATENCIÓN DE SALUD] ,Subtypes ,0303 health sciences ,Questionnaire ,business.industry ,Neurodegenerative disorder ,medicine.disease ,humanities ,Scale ,Psychiatry and Mental health ,Environment and Public Health::Public Health::Epidemiologic Measurements::Demography::Health Status::Quality of Life [HEALTH CARE] ,Impact ,Persons::Disabled Persons [NAMED GROUPS] ,Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Basal Ganglia Diseases::Parkinsonian Disorders::Parkinson Disease [DISEASES] ,Neurology. Diseases of the nervous system ,Neurology (clinical) ,Stage iv ,business ,030217 neurology & neurosurgery ,Qualitat de vida - Avaluació ,Research Article - Abstract
COPPADIS Study Group., [Introduction] In a degenerative disorder such as Parkinson’s disease (PD), it is important to establish clinical stages that allow to know the course of the disease. Our aim was to analyze whether a scale combining Hoehn and Yahr’s motor stage (H&Y) and the nonmotor symptoms burden (NMSB) (assessed by the nonmotor symptoms scale (NMSS)) provides information about the disability and the patient’s quality of life (QoL) with regard to a defined clinical stage., [Materials and Methods] Cross-sectional study in which 603 PD patients from the COPPADIS cohort were classified according to H&Y (1, stage I; 2, stage II; 3, stage III; 4, stage IV/V) and NMSB (A: NMSS = 0–20; B: NMSS = 21–40; C: NMSS = 41–70; D: NMSS ≥ 71) in 16 stages (HY.NMSB, from 1A to 4D). QoL was assessed with the PDQ-39SI, PQ-10, and EUROHIS-QOL8 and disability with the Schwab&England ADL (Activities of Daily Living) scale., [Results] A worse QoL and greater disability were observed at a higher stage of H&Y and NMSB (). Combining both (HY.NMSB), patients in stages 1C and 1D and 2C and 2D had significantly worse QoL and/or less autonomy for ADL than those in stages 2A and 2B and 3A and 3B, respectively (; e.g., PDQ-39SI in 1D [n = 15] vs 2A [n = 101]: 28.6 ± 17.1 vs 7.9 ± 5.8; )., [Conclusion] The HY.NMSB scale is simple and reflects the degree of patient involvement more accurately than the H&Y. Patients with a lower H&Y stage may be more affected if they have a greater NMS burden.
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- 2021
17. Management of Parkinson's disease and other movement disorders in woman of childbearing age: Part 1
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García-Ramos, R., Santos-García, D., Alonso-Cánovas, A., Álvarez-Sauco, M., Ares, B., Ávila, A., Mir Rivera, Pablo, Martínez Castrillo, J. C., and Universidad de Sevilla. Departamento de Medicina
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Levodopa ,Embarazo ,Lactancia ,Enfermedad de Parkinson ,Pregnancy ,Parkinson's disease ,Breastfeeding ,Reproductive health ,Salud reproductiva - Abstract
Introducción El manejo de la enfermedad de Parkinson en la mujer en edad fértil nos plantea como principal reto el manejo de la enfermedad y los fármacos durante el embarazo y lactancia. El aumento de la edad gestacional de la mujer hace más probable que la incidencia de embarazos pueda incrementarse. Objetivo Definir las características clínicas y los factores que condicionan la vida de la mujer en edad fértil con enfermedad de Parkinson y definir una guía de actuación y manejo del embarazo en estas pacientes. Resultados Este documento de consenso se ha realizado mediante una búsqueda bibliográfica exhaustiva y discusión de los contenidos realizados por un grupo de expertos en trastornos del movimiento de la Sociedad Española de Neurología. Conclusiones La enfermedad de Parkinson afecta a todos los aspectos relacionados con la salud sexual y reproductiva de la mujer en edad fértil. Se debe planificar el embarazo en las mujeres con enfermedad de Parkinson para minimizar los riesgos teratogénicos sobre el feto. Se recomienda un abordaje multidisciplinar de estas pacientes para tener en cuenta todos los aspectos implicados. Introduction The main challenge of Parkinson's disease in women of childbearing age is managing symptoms and drugs during pregnancy and breastfeeding. The increase in the age at which women are having children makes it likely that these pregnancies will become more common in future. Objectives This study aims to define the clinical characteristics of women of childbearing age with Parkinson's disease and the factors affecting their lives, and to establish a series of guidelines for managing pregnancy in these patients. Results This consensus document was developed through an exhaustive literature search and a discussion of the available evidence by a group of movement disorder experts from the Spanish Society of Neurology. Conclusions Parkinson's disease affects all aspects of sexual and reproductive health in women of childbearing age. Pregnancy should be well planned to minimise teratogenic risk. A multidisciplinary approach should be adopted in the management of these patients in order to take all relevant considerations into account.
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- 2021
18. Management of Parkinson's disease and other movement disorders in woman of childbearing age: Part 1
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García-Ramos, Rocío, Santos-García, Diego, Alonso Cánovas, Araceli, Álvarez-Sauco, María, Ares, B., Ávila, A., Caballol, Nuria, Carrillo, Fátima, Escamilla-Sevilla, Francisco, Freire, Eric, Gómez Esteban, J. C., Legarda, Inés, López-Manzanares, Lydia, López-Valdés, Eva, Martínez Torres, Irene, Mata, M., Pareés, I., Pascual-Sedano, Berta, Mir, Pablo, and Martínez-Castrillo, J. C.
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Levodopa ,Embarazo ,Lactancia ,Enfermedad de Parkinson ,Pregnancy ,Parkinson's disease ,Reproductive health ,Breastfeeding ,Salud reproductiva ,Reproductive heatth - Abstract
[ES] Introducción: El manejo de la enfermedad de Parkinson en la mujer en edad fértil nos plantea como principal reto el manejo de la enfermedad y los fármacos durante el embarazo y lactancia. El aumento de la edad gestacional de la mujer hace más probable que la incidencia de embarazos pueda incrementarse. Objetivo: Definir las características clínicas y los factores que condicionan la vida de la mujer en edad fértil con enfermedad de Parkinson y definir una guía de actuación y manejo del embarazo en estas pacientes. Resultados: Este documento de consenso se ha realizado mediante una búsqueda bibliográfica exhaustiva y discusión de los contenidos realizados por un grupo de expertos en trastornos del movimiento de la Sociedad Española de Neurología. Conclusiones: La enfermedad de Parkinson afecta a todos los aspectos relacionados con la salud sexual y reproductiva de la mujer en edad fértil. Se debe planificar el embarazo en las mujeres con enfermedad de Parkinson para minimizar los riesgos teratogénicos sobre el feto. Se recomienda un abordaje multidisciplinar de estas pacientes para tener en cuenta todos los aspectos implicados. [EN] Introduction: The main challenge of Parkinson's disease in women of childbearing age is managing symptoms and drugs during pregnancy and breastfeeding. The increase in the age at which women are having children makes it likely that these pregnancies will become more common in future. Objectives: This study aims to define the clinical characteristics of women of childbearing age with Parkinson's disease and the factors affecting their lives, and to establish a series of guidelines for managing pregnancy in these patients. Results: This consensus document was developed through an exhaustive literature search and a discussion of the available evidence by a group of movement disorder experts from the Spanish Society of Neurology. Conclusions: Parkinson's disease affects all aspects of sexual and reproductive health in women of childbearing age. Pregnancy should be well planned to minimise teratogenic risk. A multidisciplinary approach should be adopted in the management of these patients in order to take all relevant considerations into account.
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- 2021
19. Manejo de la enfermedad de Parkinson y otros trastornos del movimiento en mujeres en edad fértil: Parte 1
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Universidad de Sevilla. Departamento de Medicina, García-Ramos, R., Santos-García, D., Alonso-Cánovas, A., Álvarez-Sauco, M., Ares, B., Ávila, A., Mir Rivera, Pablo, Martínez Castrillo, J. C., Universidad de Sevilla. Departamento de Medicina, García-Ramos, R., Santos-García, D., Alonso-Cánovas, A., Álvarez-Sauco, M., Ares, B., Ávila, A., Mir Rivera, Pablo, and Martínez Castrillo, J. C.
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Introducción El manejo de la enfermedad de Parkinson en la mujer en edad fértil nos plantea como principal reto el manejo de la enfermedad y los fármacos durante el embarazo y lactancia. El aumento de la edad gestacional de la mujer hace más probable que la incidencia de embarazos pueda incrementarse. Objetivo Definir las características clínicas y los factores que condicionan la vida de la mujer en edad fértil con enfermedad de Parkinson y definir una guía de actuación y manejo del embarazo en estas pacientes. Resultados Este documento de consenso se ha realizado mediante una búsqueda bibliográfica exhaustiva y discusión de los contenidos realizados por un grupo de expertos en trastornos del movimiento de la Sociedad Española de Neurología. Conclusiones La enfermedad de Parkinson afecta a todos los aspectos relacionados con la salud sexual y reproductiva de la mujer en edad fértil. Se debe planificar el embarazo en las mujeres con enfermedad de Parkinson para minimizar los riesgos teratogénicos sobre el feto. Se recomienda un abordaje multidisciplinar de estas pacientes para tener en cuenta todos los aspectos implicados., Introduction The main challenge of Parkinson's disease in women of childbearing age is managing symptoms and drugs during pregnancy and breastfeeding. The increase in the age at which women are having children makes it likely that these pregnancies will become more common in future. Objectives This study aims to define the clinical characteristics of women of childbearing age with Parkinson's disease and the factors affecting their lives, and to establish a series of guidelines for managing pregnancy in these patients. Results This consensus document was developed through an exhaustive literature search and a discussion of the available evidence by a group of movement disorder experts from the Spanish Society of Neurology. Conclusions Parkinson's disease affects all aspects of sexual and reproductive health in women of childbearing age. Pregnancy should be well planned to minimise teratogenic risk. A multidisciplinary approach should be adopted in the management of these patients in order to take all relevant considerations into account.
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- 2021
20. Predictors of Loss of Functional Independence in Parkinson’s Disease: Results from the COPPADIS Cohort at 2-Year Follow-Up and Comparison with a Control Group
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Curemos el Párkinson, Santos-García, Diego, Deus Fonticoba, T. de, Cores Bartolomé, Carlos, Naya Ríos, Lucía, García Roca, Lucía, Martínez Miró, Cristina, Canfield, Hector, Jesús Maestre, Silvia, Aguilar Barberá, Miquel, Pastor, Pau, Cosgaya, Marina, García Caldentey, Juan, Caballol, Nuria, Legarda, Inés, Hernández-Vara, Jorge, Cabo-Lopez, Iria, López-Manzanares, Lydia, González-Aramburu, Isabel, Ávila-Rivera, María A., Gómez Mayordomo, Víctor, Nogueira, Víctor, Puente, Víctor, Dotor, Julio, Borrué, Carmen, Solano Vila, Berta, Álvarez-Sauco, María, Vela, Lydia, Escalante, Sonia, Cubo, Esther, Carrillo Padilla, Francisco, Martínez-Castrillo, J. C., Sánchez Alonso, Pilar, Alonso Losada, María G., López-Ariztegui, Nuria, Gastón, Itziar, Kulisevsky, Jaime, Blázquez-Estrada, Marta, Seijo-Martínez, Manuel, Ruiz Martínez, Javier, Valero, Caridad, Kurtis, Mónica, Fábregues-Boixar, Oriol de, González Ardura, Jessica, Alonso Redondo, Rubén, Ordás, Carlos, López-Díaz, Luis M., McAfee, Darrian, Martínez-Martín, Pablo, Mir, Pablo, Curemos el Párkinson, Santos-García, Diego, Deus Fonticoba, T. de, Cores Bartolomé, Carlos, Naya Ríos, Lucía, García Roca, Lucía, Martínez Miró, Cristina, Canfield, Hector, Jesús Maestre, Silvia, Aguilar Barberá, Miquel, Pastor, Pau, Cosgaya, Marina, García Caldentey, Juan, Caballol, Nuria, Legarda, Inés, Hernández-Vara, Jorge, Cabo-Lopez, Iria, López-Manzanares, Lydia, González-Aramburu, Isabel, Ávila-Rivera, María A., Gómez Mayordomo, Víctor, Nogueira, Víctor, Puente, Víctor, Dotor, Julio, Borrué, Carmen, Solano Vila, Berta, Álvarez-Sauco, María, Vela, Lydia, Escalante, Sonia, Cubo, Esther, Carrillo Padilla, Francisco, Martínez-Castrillo, J. C., Sánchez Alonso, Pilar, Alonso Losada, María G., López-Ariztegui, Nuria, Gastón, Itziar, Kulisevsky, Jaime, Blázquez-Estrada, Marta, Seijo-Martínez, Manuel, Ruiz Martínez, Javier, Valero, Caridad, Kurtis, Mónica, Fábregues-Boixar, Oriol de, González Ardura, Jessica, Alonso Redondo, Rubén, Ordás, Carlos, López-Díaz, Luis M., McAfee, Darrian, Martínez-Martín, Pablo, and Mir, Pablo
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[Background and objective] The aim of this study was to compare the progression of independence in activities of daily living (ADL) in Parkinson’s disease (PD) patients versus a control group, as well as to identify predictors of disability progression and functional dependency (FD)., [Patients and Methods] PD patients and control subjects, who were recruited from 35 centers of Spain from the COPPADIS cohort between January 2016 and November 2017 (V0), were included. Patients and subjects were then evaluated again at the 2-year follow-up (V2). Disability was assessed with the Schwab & England Activities of Daily Living Scale (S&E-ADLS) at V0 and V2. FD was defined as an S&E-ADLS score less than 80%., [Results] In the PD group, a significant decrease in the S&E-ADLS score from V0 to V2 (N = 507; from 88.58 ± 10.19 to 84.26 ± 13.38; p < 0.0001; Cohen’s effect size = −0.519) was observed but not in controls (N = 124; from 98.87 ± 6.52 to 99.52 ± 2.15; p = 0.238). When only patients considered functional independent at baseline were included, 55 out of 463 (11.9%) converted to functional dependent at V2. To be a female (OR = 2.908; p = 0.009), have longer disease duration (OR = 1.152; p = 0.002), have a non-tremoric motor phenotype at baseline (OR = 3.574; p = 0.004), have a higher score at baseline in FOGQ (OR = 1.244; p < 0.0001) and BDI-II (OR = 1.080; p = 0.008), have a lower score at baseline in PD-CRS (OR = 0.963; p = 0.008), and have a greater increase in the score from V0 to V2 in UPDRS-IV (OR = 1.168; p = 0.0.29), FOGQ (OR = 1.348; p < 0.0001) and VAFS-Mental (OR = 1.177; p = 0.013) (adjusted R-squared 0.52; Hosmer and Lemeshow test = 0.94) were all found to be independent predictors of FD at V2., [Conclusions] In conclusion, autonomy for ADL worsens in PD patients compared to controls. Cognitive impairment, gait problems, fatigue, depressive symptoms, more advanced disease, and a non-tremor phenotype are independent predictors of FD in the short-term.
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- 2021
21. Predictors of clinically significant quality of life impairment in Parkinson’s disease
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AbbVie Pharmaceuticals, Abbott Laboratories, Allergan Foundation, BIAL Foundation, Merz Pharma, UCB Pharma, Zambon, Ministerio de Economía y Competitividad (España), Instituto de Salud Carlos III, European Commission, Junta de Andalucía, Sociedad Andaluza de Neurología, Jacques and Gloria Gossweiler Foundation, Fundación Alicia Koplowitz, Fundación Mutua Madrileña, Santos-García, Diego, Deus Fonticoba, T. de, Cores Bartolomé, Carlos, Muñoz, Guillermo, Paz González, J. M., Martínez Miró, Cristina, Suárez, Ester, Jesús Maestre, Silvia, Aguilar Barberá, Miquel, Pastor, Pau, Planellas, Lluís, Cosgaya, Marina, García Caldentey, Juan, Caballol, Nuria, Legarda, Inés, Hernández-Vara, Jorge, Cabo-Lopez, Iria, López Manzanares, Luis, González-Aramburu, Isabel, Ávila-Rivera, María A., Catalán, M. J., Nogueira, Víctor, Puente, Víctor, Ruíz de Arcos, María, Borrué, Carmen, Solano Vila, Berta, Álvarez-Sauco, María, Vela, Lydia, Escalante, Sonia, Cubo, Esther, Carrillo Padilla, Francisco, Martínez-Castrillo, J. C., Sánchez Alonso, Pilar, Alonso Losada, María G., López-Ariztegui, Nuria, Gastón, Itziar, Clavero, Pedro, Kulisevsky, Jaime, Blázquez-Estrada, Marta, Seijo-Martínez, Manuel, Ruiz Martínez, Javier, Valero, Caridad, Kurtis, Mónica, Fábregues-Boixar, Oriol de, González Ardura, Jessica, Ordás, Carlos, López-Díaz, Luis M., McAfee, Darrian, Martínez-Martín, Pablo, Mir, Pablo, AbbVie Pharmaceuticals, Abbott Laboratories, Allergan Foundation, BIAL Foundation, Merz Pharma, UCB Pharma, Zambon, Ministerio de Economía y Competitividad (España), Instituto de Salud Carlos III, European Commission, Junta de Andalucía, Sociedad Andaluza de Neurología, Jacques and Gloria Gossweiler Foundation, Fundación Alicia Koplowitz, Fundación Mutua Madrileña, Santos-García, Diego, Deus Fonticoba, T. de, Cores Bartolomé, Carlos, Muñoz, Guillermo, Paz González, J. M., Martínez Miró, Cristina, Suárez, Ester, Jesús Maestre, Silvia, Aguilar Barberá, Miquel, Pastor, Pau, Planellas, Lluís, Cosgaya, Marina, García Caldentey, Juan, Caballol, Nuria, Legarda, Inés, Hernández-Vara, Jorge, Cabo-Lopez, Iria, López Manzanares, Luis, González-Aramburu, Isabel, Ávila-Rivera, María A., Catalán, M. J., Nogueira, Víctor, Puente, Víctor, Ruíz de Arcos, María, Borrué, Carmen, Solano Vila, Berta, Álvarez-Sauco, María, Vela, Lydia, Escalante, Sonia, Cubo, Esther, Carrillo Padilla, Francisco, Martínez-Castrillo, J. C., Sánchez Alonso, Pilar, Alonso Losada, María G., López-Ariztegui, Nuria, Gastón, Itziar, Clavero, Pedro, Kulisevsky, Jaime, Blázquez-Estrada, Marta, Seijo-Martínez, Manuel, Ruiz Martínez, Javier, Valero, Caridad, Kurtis, Mónica, Fábregues-Boixar, Oriol de, González Ardura, Jessica, Ordás, Carlos, López-Díaz, Luis M., McAfee, Darrian, Martínez-Martín, Pablo, and Mir, Pablo
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Quality of life (QOL) plays an important role in independent living in Parkinson’s disease (PD) patients, being crucial to know what factors impact QoL throughout the course of the disease. Here we identified predictors of QoL impairment in PD patients from a Spanish cohort. PD patients recruited from 35 centers of Spain from the COPPADIS cohort from January 2016, to November 2017, were followed up during 2 years. Health-related QoL (HRQoL) and global QoL (GQoL) were assessed with the 39-item Parkinson’s disease Questionnaire (PDQ-39) and the EUROHIS-QOL 8-item index (EUROHIS-QOL8), respectively, at baseline (V0) and at 24 months ± 1 month (V2). Clinically significant QoL impairment was defined as presenting an increase (PDQ-39SI) or decrement (EUROHIS-QOL8) at V2 ≥ 10% of the score at baseline (V0). A comparison with a control group was conducted for GQoL. GQoL did not change significantly in PD patients (N = 507; p = 0.686) or in the control group (N = 119; p = 0.192). The mean PDQ-39SI was significantly increased in PD patients (62.7 ± 8.5 years old; 58.8% males; N = 500) by 21.6% (from 16.7 ± 13 to 20.3 ± 16.4; p < 0.0001) at V2. Ninety-three patients (18.6%) presented a clinically significant HRQoL impairment at V2. To be younger (OR = 0.896; 95% CI 0.829–0.968; p = 0.006), to be a female (OR = 4.181; 95% CI 1.422–12.290; p = 0.009), and to have a greater increase in BDI-II (Beck Depression Inventory-II) (OR = 1.139; 95% CI 1.053–1.231; p = 0.001) and NMSS (Non-Motor Symptoms Scale) (OR = 1.052; 95% CI 1.027–1.113; p < 0.0001) total scores from V0 to V2 were associated with clinically significant HRQoL impairment at the 2-year follow-up (Hosmer–Lemeshow test, p = 0.665; R 2 = 0.655). An increase in ≥5 and ≥10 points of BDI-II and NMSS total score at V2 multiplied the probability of presenting clinically significant HRQoL impairment by 5 (OR = 5.453; 95% CI 1.663–17.876; p = 0.005) and 8 (OR = 8.217; 95% CI, 2.975–22.696; p = 0.002), respectively. In conclusion
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- 2021
22. Sleep Problems Are Related to a Worse Quality of Life and a Greater Non-Motor Symptoms Burden in Parkinson’s Disease
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Santos-García, Diego, Suárez Castro, Ester, Deus Fonticoba, T. de, Feal Painceiras, María J., Muñoz Enríquez, J. G., Paz González, J. M., Cores Bartolomé, Carlos, Planellas, Lluís, García Caldentey, Juan, Caballol, Nuria, Legarda, Inés, Cabo-Lopez, Iria, López-Manzanares, Lydia, Ávila-Rivera, María A., Catalán, M. J., Nogueira, Víctor, Borrué, Carmen, Álvarez-Sauco, María, Vela, Lydia, Cubo, Esther, Martínez-Castrillo, J. C., Sánchez Alonso, Pilar, Alonso Losada, María G., López-Ariztegui, Nuria, Gastón, Itziar, Kulisevsky, Jaime, Pagonabarraga-Mora, Javier, Seijo-Martínez, Manuel, Ruiz Martínez, Javier, Valero, Caridad, Kurtis, Mónica, González Ardura, Jessica, Prieto Jurczynska, C., Mir, Pablo, Martínez-Martinón, P., Santos-García, Diego, Suárez Castro, Ester, Deus Fonticoba, T. de, Feal Painceiras, María J., Muñoz Enríquez, J. G., Paz González, J. M., Cores Bartolomé, Carlos, Planellas, Lluís, García Caldentey, Juan, Caballol, Nuria, Legarda, Inés, Cabo-Lopez, Iria, López-Manzanares, Lydia, Ávila-Rivera, María A., Catalán, M. J., Nogueira, Víctor, Borrué, Carmen, Álvarez-Sauco, María, Vela, Lydia, Cubo, Esther, Martínez-Castrillo, J. C., Sánchez Alonso, Pilar, Alonso Losada, María G., López-Ariztegui, Nuria, Gastón, Itziar, Kulisevsky, Jaime, Pagonabarraga-Mora, Javier, Seijo-Martínez, Manuel, Ruiz Martínez, Javier, Valero, Caridad, Kurtis, Mónica, González Ardura, Jessica, Prieto Jurczynska, C., Mir, Pablo, and Martínez-Martinón, P.
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[Introduction] The aim of the present study was to examine the frequency of self-reported sleep problems and their associated factors in a large cohort of PD patients., [Methods] PD patients and controls, recruited from 35 centers of Spain from the COPPADIS cohort were included in this cross-sectional study. Sleep problems were assessed by the Spanish version of the Parkinson’s disease Sleep Scale version 1 (PDSS-1). An overall score below 82 or a score below 5 on at least 1 item was defined as sleep problems., [Results] The frequency of sleep problems was nearly double in PD patients compared to controls: 65.8% (448/681) vs 33.5% (65/206) (p < 0.0001). Mean total PDSS score was lower in PD patients than controls: 114.9 ± 28.8 vs 132.8 ± 16.3 (p < 0.0001). Quality of life (QoL) was worse in PD patients with sleep problems compared to those without: PDQ-39SI, 19.3 ± 14 vs 13 ± 11.6 (p < 0.0001); EUROHIS-QoL8, 3.7 ± 0.5 vs 3.9 ± 0.5 (p < 0.0001). Non-motor symptoms burden (NMSS; OR = 1.029; 95%CI 1.015–1.043; p < 0.0001) and impulse control behaviors (QUIP-RS; OR = 1.054; 95%CI 1.009–1.101; p = 0.018) were associated with sleep problems after adjustment for age, gender, disease duration, daily equivalent levodopa dose, H&Y, UPDRS-III, UPDRS-IV, PD-CRS, BDI-II, NPI, VAS-Pain, VAFS, FOGQ, and total number of non-antiparkinsonian treatments., [Conclusion] Sleep problems were frequent in PD patients and were related to both a worse QoL and a greater non-motor symptoms burden in PD. These findings call for increased awareness of sleep problems in PD patients.
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- 2021
23. Identifying comorbidities and lifestyle factors contributing to the cognitive profile of early Parkinson’s disease
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Curemos el Párkinson, Martínez-Horta, Saúl, Bejr-Kasem, Helena, Horta-Barba, Andrea, Pascual-Sedano, Berta, Santos-García, Diego, Deus Fonticoba, T. de, Jesús Maestre, Silvia, Aguilar Barberá, Miquel, Planellas, Lluís, García Caldentey, Juan, Caballol, Nuria, Vives-Pastor, Bárbara, Hernández-Vara, Jorge, Cabo-Lopez, Iria, López-Manzanares, Lydia, González-Aramburu, Isabel, Ávila-Rivera, María A., Catalán, M. J., López-Díaz, Luis M., Puente, Víctor, García-Moreno, José Manuel, Borrué, Carmen, Solano Vila, Berta, Álvarez-Sauco, María, Vela, Lydia, Escalante, Sonia, Cubo, Esther, Carrillo Padilla, Francisco, Martínez-Castrillo, J. C., Sánchez Alonso, Pilar, Alonso Losada, María G., López-Ariztegui, Nuria, Gastón, Itziar, Blázquez-Estrada, Marta, Seijo-Martínez, Manuel, Ruiz Martínez, Javier, Valero, Caridad, Kurtis, Mónica, Fábregues-Boixar, Oriol de, González Ardura, Jessica, Prieto-Jurczynska, Cristina, Martínez-Martín, Pablo, Mir, Pablo, Kulisevsky, Jaime, Curemos el Párkinson, Martínez-Horta, Saúl, Bejr-Kasem, Helena, Horta-Barba, Andrea, Pascual-Sedano, Berta, Santos-García, Diego, Deus Fonticoba, T. de, Jesús Maestre, Silvia, Aguilar Barberá, Miquel, Planellas, Lluís, García Caldentey, Juan, Caballol, Nuria, Vives-Pastor, Bárbara, Hernández-Vara, Jorge, Cabo-Lopez, Iria, López-Manzanares, Lydia, González-Aramburu, Isabel, Ávila-Rivera, María A., Catalán, M. J., López-Díaz, Luis M., Puente, Víctor, García-Moreno, José Manuel, Borrué, Carmen, Solano Vila, Berta, Álvarez-Sauco, María, Vela, Lydia, Escalante, Sonia, Cubo, Esther, Carrillo Padilla, Francisco, Martínez-Castrillo, J. C., Sánchez Alonso, Pilar, Alonso Losada, María G., López-Ariztegui, Nuria, Gastón, Itziar, Blázquez-Estrada, Marta, Seijo-Martínez, Manuel, Ruiz Martínez, Javier, Valero, Caridad, Kurtis, Mónica, Fábregues-Boixar, Oriol de, González Ardura, Jessica, Prieto-Jurczynska, Cristina, Martínez-Martín, Pablo, Mir, Pablo, and Kulisevsky, Jaime
- Abstract
[Background] Identifying modifiable risk factors for cognitive impairment in the early stages of Parkinson’s disease (PD) and estimating their impact on cognitive status may help prevent dementia (PDD) and the design of cognitive trials., [Methods] Using a standard approach for the assessment of global cognition in PD and controlling for the effects of age, education and disease duration, we explored the associations between cognitive status, comorbidities, metabolic variables and lifestyle variables in 533 PD participants from the COPPADIS study., [Results] Among the overall sample, 21% of participants were classified as PD-MCI (n = 114) and 4% as PDD (n = 26). The prevalence of hypertension, diabetes and dyslipidemia was significantly higher in cognitively impaired patients while no between-group differences were found for smoking, alcohol intake or use of supplementary vitamins. Better cognitive scores were significantly associated with regular physical exercise (p < 0.05) and cognitive stimulation (< 0.01). Cognitive performance was negatively associated with interleukin 2 (Il2) (p < 0.05), Il6 (p < 0.05), iron (p < 0.05), and homocysteine (p < 0.005) levels, and positively associated with vitamin B12 levels (p < 0.005)., [Conclusions] We extend previous findings regarding the positive and negative influence of various comorbidities and lifestyle factors on cognitive status in early PD patients, and reinforce the need to identify and treat potentially modifiable variables with the intention of exploring the possible improvement of the global cognitive status of patients with PD.
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- 2021
24. Staging Parkinson’s Disease Combining Motor and Nonmotor Symptoms Correlates with Disability and Quality of Life
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Santos-García, Diego, Deus Fonticoba, T. de, Paz González, J. M., Cores Bartolomé, Carlos, Valdés Aymerich, Lorena, Muñoz Enríquez, J. G., Suárez, Ester, Jesús Maestre, Silvia, Aguilar Barberá, Miquel, Pastor, Pau, Planellas, Lluís, Cosgaya, Marina, García Caldentey, Juan, Caballol, Nuria, Legarda, Inés, Hernández-Vara, Jorge, Cabo-Lopez, Iria, López-Manzanares, Lydia, González-Aramburu, Isabel, Ávila-Rivera, María A., Catalán, M. J., Nogueira, Víctor, Puente, Víctor, García-Moreno, José Manuel, Borrué, Carmen, Solano Vila, Berta, Álvarez-Sauco, María, Vela, Lydia, Escalante, Sonia, Cubo, Esther, Carrillo Padilla, Francisco, Martínez-Castrillo, J. C., Sánchez Alonso, Pilar, Alonso, Gemma, López-Ariztegui, Nuria, Gastón, Itziar, Kulisevsky, Jaime, Blázquez-Estrada, Marta, Seijo-Martínez, Manuel, Ruiz Martínez, Javier, Valero, Caridad, Kurtis, Mónica, Fábregues-Boixar, Oriol de, Ardura, Jessica, Ordás, Carlos, López-Díaz, Luis M., Mir, Pablo, Martínez-Martín, Pablo, Santos-García, Diego, Deus Fonticoba, T. de, Paz González, J. M., Cores Bartolomé, Carlos, Valdés Aymerich, Lorena, Muñoz Enríquez, J. G., Suárez, Ester, Jesús Maestre, Silvia, Aguilar Barberá, Miquel, Pastor, Pau, Planellas, Lluís, Cosgaya, Marina, García Caldentey, Juan, Caballol, Nuria, Legarda, Inés, Hernández-Vara, Jorge, Cabo-Lopez, Iria, López-Manzanares, Lydia, González-Aramburu, Isabel, Ávila-Rivera, María A., Catalán, M. J., Nogueira, Víctor, Puente, Víctor, García-Moreno, José Manuel, Borrué, Carmen, Solano Vila, Berta, Álvarez-Sauco, María, Vela, Lydia, Escalante, Sonia, Cubo, Esther, Carrillo Padilla, Francisco, Martínez-Castrillo, J. C., Sánchez Alonso, Pilar, Alonso, Gemma, López-Ariztegui, Nuria, Gastón, Itziar, Kulisevsky, Jaime, Blázquez-Estrada, Marta, Seijo-Martínez, Manuel, Ruiz Martínez, Javier, Valero, Caridad, Kurtis, Mónica, Fábregues-Boixar, Oriol de, Ardura, Jessica, Ordás, Carlos, López-Díaz, Luis M., Mir, Pablo, and Martínez-Martín, Pablo
- Abstract
[Introduction] In a degenerative disorder such as Parkinson’s disease (PD), it is important to establish clinical stages that allow to know the course of the disease. Our aim was to analyze whether a scale combining Hoehn and Yahr’s motor stage (H&Y) and the nonmotor symptoms burden (NMSB) (assessed by the nonmotor symptoms scale (NMSS)) provides information about the disability and the patient’s quality of life (QoL) with regard to a defined clinical stage., [Materials and Methods] Cross-sectional study in which 603 PD patients from the COPPADIS cohort were classified according to H&Y (1, stage I; 2, stage II; 3, stage III; 4, stage IV/V) and NMSB (A: NMSS = 0–20; B: NMSS = 21–40; C: NMSS = 41–70; D: NMSS ≥ 71) in 16 stages (HY.NMSB, from 1A to 4D). QoL was assessed with the PDQ-39SI, PQ-10, and EUROHIS-QOL8 and disability with the Schwab&England ADL (Activities of Daily Living) scale., [Results] A worse QoL and greater disability were observed at a higher stage of H&Y and NMSB (). Combining both (HY.NMSB), patients in stages 1C and 1D and 2C and 2D had significantly worse QoL and/or less autonomy for ADL than those in stages 2A and 2B and 3A and 3B, respectively (; e.g., PDQ-39SI in 1D [n = 15] vs 2A [n = 101]: 28.6 ± 17.1 vs 7.9 ± 5.8; )., [Conclusion] The HY.NMSB scale is simple and reflects the degree of patient involvement more accurately than the H&Y. Patients with a lower H&Y stage may be more affected if they have a greater NMS burden.
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- 2021
25. Present and future of parkinson’s disease in Spain: Parkinson-2030 delphi project
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Zambon, Santos-García, Diego, Blázquez-Estrada, Marta, Calopa, Matilde, Escamilla-Sevilla, Francisco, Freire, Eric, García-Ruiz, Pedro José, Grandas, Francisco, Kulisevsky, Jaime, López-Manzanares, Lydia, Martínez-Castrillo, J. C., Mir, Pablo, Pagonabarraga-Mora, Javier, Pérez-Errazquin, Francisco, Salom, José María, Tijero, Beatriz, Valldeoriola, Francesc, Yáñez, Rosa, Avilés, Arantxa, Luquin-Piudo, M. Rosario, Zambon, Santos-García, Diego, Blázquez-Estrada, Marta, Calopa, Matilde, Escamilla-Sevilla, Francisco, Freire, Eric, García-Ruiz, Pedro José, Grandas, Francisco, Kulisevsky, Jaime, López-Manzanares, Lydia, Martínez-Castrillo, J. C., Mir, Pablo, Pagonabarraga-Mora, Javier, Pérez-Errazquin, Francisco, Salom, José María, Tijero, Beatriz, Valldeoriola, Francesc, Yáñez, Rosa, Avilés, Arantxa, and Luquin-Piudo, M. Rosario
- Abstract
Parkinson’s disease (PD) is a chronic progressive and irreversible disease and the second most common neurodegenerative disease worldwide. In Spain, it affects around 120.000–150.000 individuals, and its prevalence is estimated to increase in the future. PD has a great impact on patients’ and caregivers’ lives and also entails a substantial socioeconomic burden. The aim of the present study was to examine the current situation and the 10-year PD forecast for Spain in order to optimize and design future management strategies. This study was performed using the modified Delphi method to try to obtain a consensus among a panel of movement disorders experts. According to the panel, future PD management will improve diagnostic capacity and follow-up, it will include multidisciplinary teams, and innovative treatments will be developed. The expansion of new technologies and studies on biomarkers will have an impact on future PD management, leading to more accurate diagnoses, prognoses, and individualized therapies. However, the socio-economic impact of the disease will continue to be significant by 2030, especially for patients in advanced stages. This study highlighted the unmet needs in diagnosis and treatment and how crucial it is to establish recommendations for future diagnostic and therapeutic management of PD.
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- 2021
26. Manejo de la enfermedad de Parkinson y otros trastornos del movimiento en mujeres en edad fértil: parte 2
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García-Ramos, Rocío, Santos-García, Diego, Alonso Cánovas, Araceli, Álvarez-Sauco, María, Ares, B., Ávila, A., Caballol, Nuria, Carrillo, Fátima, Escamilla-Sevilla, Francisco, Freire, Eric, Gómez Esteban, Juan Carlos, Legarda, Inés, López-Manzanares, Lydia, López-Valdés, Eva, Martínez Torres, Irene, Mata, M., Pareés, I., Pascual-Sedano, Berta, Martínez-Castrillo, J. C., Mir, Pablo, García-Ramos, Rocío, Santos-García, Diego, Alonso Cánovas, Araceli, Álvarez-Sauco, María, Ares, B., Ávila, A., Caballol, Nuria, Carrillo, Fátima, Escamilla-Sevilla, Francisco, Freire, Eric, Gómez Esteban, Juan Carlos, Legarda, Inés, López-Manzanares, Lydia, López-Valdés, Eva, Martínez Torres, Irene, Mata, M., Pareés, I., Pascual-Sedano, Berta, Martínez-Castrillo, J. C., and Mir, Pablo
- Abstract
[ES] Introducción: Muchas enfermedades que cursan con trastornos del movimiento hipercinético comienzan o afectan a mujeres en edad fértil. Es importante conocer los riesgos que tienen las mujeres con estas enfermedades durante el embarazo, así como los posibles efectos de los tratamientos sobre el feto. Objetivos: Definir las características clínicas y los factores que condicionan la vida de la mujer en edad fértil con distonía, corea, síndrome de Tourette, temblor y síndrome de piernas inquietas. Definir una guía de actuación y manejo del embarazo y lactancia en las pacientes con esta enfermedad. Desarrollo: Este documento de consenso se ha realizado mediante una búsqueda bibliográfica exhaustiva y discusión de los contenidos llevadas a cabo por un Grupo de Expertos en Trastornos del Movimiento de la Sociedad Española de Neurología (SEN). Conclusiones: En todas las mujeres que padecen o comienzan con trastornos del movimiento hipercinéticos se debe valorar el riesgo-beneficio de los tratamientos, reducir al máximo la dosis eficaz o administrarlo de forma puntual en los casos en que sea posible. En aquellas enfermedades de causa hereditaria es importante un consejo genético para las familias. Es importante reconocer los trastornos del movimiento desencadenados durante el embarazo como determinadas coreas y síndrome de piernas inquietas., [EN] Introduction: Many diseases associated with hyperkinetic movement disorders manifest in women of childbearing age. It is important to understand the risks of these diseases during pregnancy, and the potential risks of treatment for the fetus. Objectives: This study aims to define the clinical characteristics and the factors affecting the lives of women of childbearing age with dystonia, chorea, Tourette syndrome, tremor, and restless legs syndrome, and to establish guidelines for management of pregnancy and breastfeeding in these patients. Results: This consensus document was developed through an exhaustive literature search and a discussion of the content by a group of movement disorder experts from the Spanish Society of Neurology. Conclusions: We must evaluate the risks and benefits of treatment in all women with hyperkinetic movement disorders, whether pre-existing or with onset during pregnancy, and aim to reduce effective doses as much as possible or to administer drugs only when necessary. In hereditary diseases, families should be offered genetic counselling. It is important to recognise movement disorders triggered during pregnancy, such as certain types of chorea and restless legs syndrome.
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- 2021
27. Manejo de la enfermedad de Parkinson y otros trastornos del movimiento en mujeres en edad fértil: Parte 1
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García-Ramos, Rocío, Santos-García, Diego, Alonso Cánovas, Araceli, Álvarez-Sauco, María, Ares, B., Ávila, A., Caballol, Nuria, Carrillo, Fátima, Escamilla-Sevilla, Francisco, Freire, Eric, Gómez Esteban, Juan Carlos, Legarda, Inés, López-Manzanares, Lydia, López-Valdés, Eva, Martínez Torres, Irene, Mata, M., Pareés, I., Pascual-Sedano, Berta, Mir, Pablo, Martínez-Castrillo, J. C., García-Ramos, Rocío, Santos-García, Diego, Alonso Cánovas, Araceli, Álvarez-Sauco, María, Ares, B., Ávila, A., Caballol, Nuria, Carrillo, Fátima, Escamilla-Sevilla, Francisco, Freire, Eric, Gómez Esteban, Juan Carlos, Legarda, Inés, López-Manzanares, Lydia, López-Valdés, Eva, Martínez Torres, Irene, Mata, M., Pareés, I., Pascual-Sedano, Berta, Mir, Pablo, and Martínez-Castrillo, J. C.
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[ES] Introducción: El manejo de la enfermedad de Parkinson en la mujer en edad fértil nos plantea como principal reto el manejo de la enfermedad y los fármacos durante el embarazo y lactancia. El aumento de la edad gestacional de la mujer hace más probable que la incidencia de embarazos pueda incrementarse. Objetivo: Definir las características clínicas y los factores que condicionan la vida de la mujer en edad fértil con enfermedad de Parkinson y definir una guía de actuación y manejo del embarazo en estas pacientes. Resultados: Este documento de consenso se ha realizado mediante una búsqueda bibliográfica exhaustiva y discusión de los contenidos realizados por un grupo de expertos en trastornos del movimiento de la Sociedad Española de Neurología. Conclusiones: La enfermedad de Parkinson afecta a todos los aspectos relacionados con la salud sexual y reproductiva de la mujer en edad fértil. Se debe planificar el embarazo en las mujeres con enfermedad de Parkinson para minimizar los riesgos teratogénicos sobre el feto. Se recomienda un abordaje multidisciplinar de estas pacientes para tener en cuenta todos los aspectos implicados., [EN] Introduction: The main challenge of Parkinson's disease in women of childbearing age is managing symptoms and drugs during pregnancy and breastfeeding. The increase in the age at which women are having children makes it likely that these pregnancies will become more common in future. Objectives: This study aims to define the clinical characteristics of women of childbearing age with Parkinson's disease and the factors affecting their lives, and to establish a series of guidelines for managing pregnancy in these patients. Results: This consensus document was developed through an exhaustive literature search and a discussion of the available evidence by a group of movement disorder experts from the Spanish Society of Neurology. Conclusions: Parkinson's disease affects all aspects of sexual and reproductive health in women of childbearing age. Pregnancy should be well planned to minimise teratogenic risk. A multidisciplinary approach should be adopted in the management of these patients in order to take all relevant considerations into account.
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- 2021
28. Mutational spectrum of GNAL, THAP1 and TOR1A genes in isolated dystonia: study in a population from Spain and systematic literature review
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Instituto de Salud Carlos III, European Commission, Junta de Andalucía, Fundación Alicia Koplowitz, Fundación Mutua Madrileña, Universidad de Sevilla, Ministerio de Educación, Cultura y Deporte (España), Gómez-Garre, Pilar, Jesús Maestre, Silvia, Periñán, María Teresa, Adarmes Gómez, A. D., Alonso Cánovas, Araceli, Blanco-Ollero, Alberto, Buiza-Rueda, Dolores, Carrillo, Fátima, Catalán, M. J., Val, Javier del, Escamilla-Sevilla, Francisco, Espinosa-Rosso, Raúl, Fernández-Moreno, María Carmen, García Moreno, J. M., García-Ruiz, Pedro José, Giacometti-Silveira, Sandra, Gutiérrez-García, Javier, López-Valdés, Eva, Macías García, Daniel, Martínez-Castrillo, J. C., Martínez Torres, Irene, Medialdea-Natera, María Pilar, Mínguez-Castellanos, Adolfo, Moya, Miguel Ángel, Ochoa-Sepúlveda, Juan José, Ojea, Tomás, Rodríguez, Nuria, Sillero-Sánchez, Miriam, Tejera-Parrado, Cristina, Mir, Pablo, Instituto de Salud Carlos III, European Commission, Junta de Andalucía, Fundación Alicia Koplowitz, Fundación Mutua Madrileña, Universidad de Sevilla, Ministerio de Educación, Cultura y Deporte (España), Gómez-Garre, Pilar, Jesús Maestre, Silvia, Periñán, María Teresa, Adarmes Gómez, A. D., Alonso Cánovas, Araceli, Blanco-Ollero, Alberto, Buiza-Rueda, Dolores, Carrillo, Fátima, Catalán, M. J., Val, Javier del, Escamilla-Sevilla, Francisco, Espinosa-Rosso, Raúl, Fernández-Moreno, María Carmen, García Moreno, J. M., García-Ruiz, Pedro José, Giacometti-Silveira, Sandra, Gutiérrez-García, Javier, López-Valdés, Eva, Macías García, Daniel, Martínez-Castrillo, J. C., Martínez Torres, Irene, Medialdea-Natera, María Pilar, Mínguez-Castellanos, Adolfo, Moya, Miguel Ángel, Ochoa-Sepúlveda, Juan José, Ojea, Tomás, Rodríguez, Nuria, Sillero-Sánchez, Miriam, Tejera-Parrado, Cristina, and Mir, Pablo
- Abstract
[Objective] We aimed to investigate the prevalence of TOR1A, GNAL and THAP1 variants as the cause of dystonia in a cohort of Spanish patients with isolated dystonia and in the literature., [Methods] A population of 2028 subjects (including 1053 patients with different subtypes of isolated dystonia and 975 healthy controls) from southern and central Spain was included. The genes TOR1A, THAP1 and GNAL were screened using a combination of high-resolution melting analysis and direct DNA resequencing. In addition, an extensive literature search to identify original articles (published before 10 August 2020) reporting mutations in TOR1A, THAP1 or GNAL associated to dystonia was performed., [Results] Pathogenic or likely pathogenic variants in TOR1A, THAP1 and GNAL were identified in 0.48%, 0.57% and 0.29% of our patients, respectively. Five patients carried the variation p.Glu303del in TOR1A. A very rare variant in GNAL (p.Ser238Asn) was found as a putative risk factor for dystonia. In the literature, variations in TOR1A, THAP1 and GNAL accounted for about 6%, 1.8% and 1.1% of published dystonia patients, respectively., [Conclusions] There is a different genetic contribution to dystonia of these three genes in our patients (about 1.3% of patients) and in the literature (about 3.6% of patients), probably due the high proportion of adult-onset cases in our cohort. As regards age at onset, site of dystonia onset, and final distribution, in our population there is a clear differentiation between DYT-TOR1A and DYT-GNAL, with DYT-THAP1 likely to be an intermediate phenotype.
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- 2021
29. Motor Fluctuations Development Is Associated with Non-Motor Symptoms Burden Progression in Parkinson’s Disease Patients: A 2-Year Follow-Up Study
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Santos-García, Diego, Deus Fonticoba, T. de, Cores Bartolomé, Carlos, Feal Panceiras, M. J., Suárez Castro, E., Canfield, Héctor, Martínez Miró, Cristina, Jesús, Silvia, Aguilar, Miquel, Pastor, Pau, Planellas, Lluís, Cosgaya, Marina, García Caldentey, Juan, Caballol, Nuria, Legarda, Ines, Hernández-Vara, Jorge, Cabo, Iria, López-Manzanares, Lydia, González-Aramburu, Isabel, Ávila-Rivera, María A., Gómez Mayordomo, Víctor, Nogueira, Víctor, Puente, Víctor, Dotor García-Soto, Julio, Borrué, Carmen, Solano Vila, Berta, Álvarez-Sauco, María, Vela, Lydia, Escalante, Sonia, Cubo, Esther, Carrillo Padilla, Francisco, Martínez-Castrillo, J. C., Sánchez Alonso, Pilar, Alonso Losada, María G., López-Ariztegui, Nuria, Gastón, Itziar, Kulisevsky, Jaime, Blázquez-Estrada, Marta, Seijo, Manuel, Ruiz Martínez, Javier, Valero, Caridad, Kurtis, Mónica, Fábregues-Boixar, Oriol de, González Ardura, Jessica, Alonso Redondo, Rubén, Ordás, Carlos, López-Díaz, Luis M., McAfee, Darrian, Martinez-Martin, Pablo, Mir, Pablo, Coppadis Study Group, AbbVie Pharmaceuticals, UCB Pharma, Lundbeck, Krka Farmacéutica, Zambon, BIAL Foundation, Italfarmaco, Teva Pharmaceutical Industries, Instituto de Salud Carlos III, Junta de Andalucía, Qualigen, Nutricia Foundation, Sanofi, Acorda, Intecsa Industrial, Pfizer, Roche, Merck & Co, Allergan Foundation, Biogen, Novartis, Boston Foundation, International Parkinson and Movement Disorder Society, Exelts, Fundació La Marató de TV3, Daiichi-Sankyo, Sociedad Española de Neurología, Psyma Ibérica, European Commission, Sociedad Andaluza de Neurología, Jacques and Gloria Gossweiler Foundation, Fundación Alicia Koplowitz, Fundación Mutua Madrileña, Institut Català de la Salut, [Santos-García D, Bartolomé CC, Painceiras MJF] Department of Neurology, Hospital Universitario de A Coruña (HUAC), Complejo Hospitalario Universitario de A Coruña (CHUAC), A Coruña, Spain. [de Deus Fonticoba T, Suárez Castro E, Canfield H] CHUF, Complejo Hospitalario Universitario de Ferrol, A Coruña, Spain. [Hernández-Vara J] CIBERNED (Centro de Investigación Biomédica en Red Enfermedades Neurodegenerativas), Madrid, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain. [de Fábregues O] Vall d’Hebron Hospital Universitari, Barcelona, Spain, and Vall d'Hebron Barcelona Hospital Campus
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motor fluctuations ,burden ,follow-up ,non-motor symptoms ,Parkinson’s disease ,Parkinson, Malaltia de - Prognosi ,Follow-up ,Clinical Biochemistry ,Non-motor symptoms ,Burden ,Motor fluctuations ,afecciones patológicas, signos y síntomas::procesos patológicos::atributos de la enfermedad::progresión de la enfermedad [ENFERMEDADES] ,enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::enfermedades de los ganglios basales::trastornos parkinsonianos::enfermedad de Parkinson [ENFERMEDADES] ,Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Basal Ganglia Diseases::Parkinsonian Disorders::Parkinson Disease [DISEASES] ,Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Disease Progression [DISEASES] - Abstract
[Objective] The aim of the present study was to analyze the progression of non-motor symptoms (NMS) burden in Parkinson's disease (PD) patients regarding the development of motor fluctuations (MF)., [Methods] PD patients without MF at baseline, who were recruited from January 2016 to November 2017 (V0) and evaluated again at a 2-year follow-up (V2) from 35 centers of Spain from the COPPADIS cohort, were included in this analysis. MF development at V2 was defined as a score ≥ 1 in the item-39 of the UPDRS-Part IV, whereas NMS burden was defined according to the Non-motor Symptoms Scale (NMSS) total score., [Results] Three hundred and thirty PD patients (62.67 ± 8.7 years old; 58.8% males) were included. From V0 to V2, 27.6% of the patients developed MF. The mean NMSS total score at baseline was higher in those patients who developed MF after the 2-year follow-up (46.34 ± 36.48 vs. 34.3 ± 29.07; p = 0.001). A greater increase in the NMSS total score from V0 to V2 was observed in patients who developed MF (+16.07 ± 37.37) compared to those who did not develop MF (+6.2 ± 25.8) (p = 0.021). Development of MF after a 2-year follow-up was associated with an increase in the NMSS total score (β = 0.128; p = 0.046) after adjustment to age, gender, years from symptoms onset, levodopa equivalent daily dose (LEDD) and the NMSS total score at baseline, and the change in LEDD from V0 to V2., [Conclusions] In PD patients, the development of MF is associated with a greater increase in the NMS burden after a 2-year follow-up., Santos García D. has received honoraria for educational presentations and advice service by Abbvie, UCB Pharma, Lundbeck, KRKA, Zambon, Bial, Italfarmaco, and Teva. De Deus Fonticoba T.: None. Cores Bartolomé C. has received honoraria for educational presentations and advice service by Lundbeck and UCB Pharma. Feal Painceiras M. J.: None. Martínez Miró C.: None. Suárez Castro E.: None. Canfield H.: None. Jesús S. has received honoraria from AbbVie, Bial, Merz, UCB, and Zambon and holds the competitive contract “Juan Rodés” supported by the Instituto de Salud Carlos III. She has received grants from the Spanish Ministry of Economy and Competitiveness (PI18/01898) and the Consejería de Salud de la Junta de Andalucía (PI-0459-2018). Aguilar M.: UCB and Schwabe with assistance to a Congress; Nutricia with assistance to a Congress and payment of lecture. Pastor P.: None. Planellas LL.: None. Cosgaya M.: None. García Caldentey J. has received honoraria for educational presentations and advice service by Qualigen, Nutricia, Abbvie, Italfarmaco, UCB Pharma, Lundbeck, Zambon, Bial, and Teva. Caballol N. has received honoraria from Bial, Italfármaco, Qualigen, Zambon, UCB, Teva, and KRKA and sponsorship from Zambon, TEVA, and Abbvie for attending medical conferences. Legarda I. has received honoraria for educational presentations and advice service by Abbvie, UCB Pharma, Zambon, Bial, and Teva. Hernández Vara J. has received travel bursaries and educational grants from Abbvie and has received honoraria for educational presentations from Abbvie, Teva, Bial, Zambon, Italfarmaco, and Sanofi-Genzyme. Cabo I. has received honoraria for educational presentations and advice service by Abbvie, Zambon, and Bial. López Manzanares L.: Compensated advisory services, consulting, research grant support, or speaker honoraria: AbbVie, Acorda, Bial, Intec Pharma, Italfarmaco, Pfizer, Roche, Teva, UCB, and Zambon. González Aramburu I.: None. Ávila Rivera MA. has received honoraria from Zambon, UCB Pharma, Qualigen, Bial, and Teva, and sponsorship from Zambon and Teva for attending conferences. Gómez Mayordomo V.: None. Nogueira V.: None. Puente V. has served as consultant for Abbvie and Zambon; has received grant/research from Abbvie. Dotor García-Soto J.: Compensated advisory services, consulting, research grant support, or speaker honoraria: Merck, Sanofi-Genzyme, Allergan, Biogen, Roche, UCB, and Novartis. Borrué C.: None. Solano Vila B. has received honoraria for educational presentations and advice service by UCB, Zambon, Teva, Abbvie, Bial. Álvarez Sauco M. has received honoraria for educational presentations and advice service by Abbvie, UCB Pharma, Zambon, Bial, and Teva. Vela L. has received honoraria for educational presentations and advice service by Abbvie, UCB Pharma, Lundbeck, KRKA, Zambon, Bial, and Teva. Escalante S. has received honoraria for educational presentations and advice service by Abbvie, Zambon, and Bial. Cubo E.; travel grants from Abbvie, Allergan, and Boston; and lecturing honoraria from Abbvie, International Parkinson’s disease Movement Disorder Society. Carrillo Padilla F. has received honoraria from Zambon (SEN Congress assistance). Martínez Castrillo JC. has received research support from Lundbeck, Italfarmaco, Allergan, Zambon, Merz, and Abbvie; he has also received speaking honoraria from AbbVie, Bial, Italfarmaco, Lundbeck, Krka, TEVA, UCB, Zambon, Allergan, Ipsen, and Merz. Sánchez Alonso P. has received honoraria for educational presentations and advice service by Abbvie, UCB Pharma, Lundbeck, KRKA, Zambon, Bial, and Teva. Alonso Losada M. G. has received honoraria for educational presentations and advice service by Zambon and Bial. López Ariztegui N. has received honoraria for educational presentations and advice service by Abbvie, Italfarmaco, Zambon, and Bial. Gastón I. has received research support from Abbvie and Zambon and has served as a consultant for Abbvie, Exelts, and Zambon. Kulisevsky J.: (1) Consulting fees: Roche, Zambon; (2) Stock/allotment: No; (3) Patent royalties/licensing fees: No; (4) Honoraria (e.g., lecture fees): Zambon, Teva, Bial, UCB; (5) Fees for promotional materials: No; (6) Research funding: Roche, Zambon, Ciberned; Instituto de SaludCarlos III; FundacióLa Maratóde TV3; (7) Scholarship from corporation: No; (8) Corporate laboratory funding: No; (9) Others (e.g., trips, travel, or gifts): No. Blázquez Estrada M. has received honoraria for educational presentations and advice service by Abbvie, Abbott, UCB Pharma, Allergan, Zambon, Bial, and Qualigen. Seijo M. has received honoraria for educational services from KRKA, UCB, Zambon, and Bial and travel grants from Daiichi and Roche. Ruiz Martínez J. has received honoraria for educational presentations, attending medical conferences, and advice service by Abbvie, UCB Pharma, Zambon, Italfarmaco, Bial, and Teva. Valero C. has received honoraria for educational services from Zambon, Abbvie and UCB. Kurtis M. has received honoraria from Bial, the Spanish Neurology Society, and the International and Movement Disorders Society. de Fábregues O. has received honoraria for educational presentations and advice service by Bial, Zambon, Abbvie, KRKA, and Teva. González Ardura J. has received honoraria for speaking from italofarma, Krka, Genzyme, UCB, Esteve, Psyma iberica marketing research SL, and Ferrer; a course grant from Teva; and travel grant from Merck. Alonso Redondo R.: None. Ordás C.: None. López Díaz L. M. has received honoraria from UCB, Lundbeck, and KRKA. McAfee D.: None. Martínez-Martin P. has received honoraria from National School of Public Health (ISCIII), Editori-al Viguera and Takeda Pharmaceuticals for lecturing in courses, and from the International Parkinson and Movement Disorder Society (MDS) for management of the Program on Rating Scales. Mir P. has received honoraria from AbbVie, Abbott, Allergan, Bial, Merz, UCB, and Zambon and has received grants from the Spanish Ministry of Economy and Competitiveness [PI16/01575] cofounded by ISCIII (Subdirección General de Evaluación y Fomento de la Investigación) and by Fondo Europeo de Desarrollo Regional (FEDER), the Consejería de Economía, Innovación, Ciencia y Empleo de la Junta de Andalucía [CVI-02526, CTS-7685], the Consejería de Salud y Bienestar Social de la Junta de Andalucía [ PI-0437-2012, PI-0471-2013], the Sociedad Andaluza de Neurología, the Jacques and Gloria Gossweiler Foundation, the Fundación Alicia Koplowitz, and the Fundación Mutua Madrileña.
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- 2022
30. Increased homocysteine levels correlate with cortical structural damage in Parkinson's disease
- Author
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Sampedro, Frederic, Martínez-Horta, Saúl, Horta-Barba, Andrea, Grothe, Michel J., Labrador, Miguel Ángel, Jesús Maestre, Silvia, Adarmes Gómez, A. D., Carrillo, Fátima, Puig-Davi, Arnau, Roldán, Florinda, Aguilar Barberá, Miquel, Pastor, Pau, Escalante, Sonia, Solano Vila, Berta, Cots Foraster, A., Ruiz Martínez, Javier, Carrillo Padilla, Francisco, Pueyo Morlans, M., González-Aramburu, Isabel, Infante, Jon, Hernández-Vara, Jorge, Fábregues-Boixar, Oriol de, Deus Fonticoba, T. de, Ávila, Asunción, Martínez-Castrillo, J. C., Bejr-Kasem, Helena, Campolongo, Antonia, Pascual-Sedano, Berta, COPPADIS Study Group, Martínez-Martín, Pablo, Santos-García, Diego, Mir, Pablo, Kulisevsky, Jaime, Centres de Recerca de Catalunya, Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas (España), Fundació La Marató de TV3, Instituto de Salud Carlos III, European Commission, and Universidad de Sevilla
- Subjects
Cerebral Cortex ,Neurology ,Parkinson's disease ,Humans ,Parkinson Disease ,Neuroimaging ,Neurology (clinical) ,Cerebral Cortical Thinning ,Magnetic Resonance Imaging ,Homocysteine - Abstract
[Background] Blood homocysteine appears to be increased in Parkinson's disease (PD) and may play a role in the development and progression of this disorder. However, the specific contribution of abnormal homocysteine levels to cortical degeneration in PD remains elusive., [Objective] To characterize the cortical structural correlates of homocysteine levels in PD., [Methods] From the COPPADIS cohort, we identified a subset of PD patients and healthy controls (HC) with available homocysteine and imaging data. Surface-based vertex-wise multiple regression analyses were performed to investigate the cortical macrostructural (cortical thinning) and microstructural (increased intracortical diffusivity) correlates of homocysteine levels in this sample., [Results] A total of 137 PD patients and 43 HC were included. Homocysteine levels were increased in the PD group (t = −2.2, p = 0.03), correlating in turn with cognitive performance (r = −0.2, p = 0.03). Homocysteine in PD was also associated with frontal cortical thinning and, in a subset of patients with available DTI data, with microstructural damage in frontal and posterior-cortical regions (p < 0.05 Monte-Carlo corrected)., [Conclusions] Homocysteine in PD appears to be associated with cognitive performance and structural damage in the cerebral cortex. These findings not only reinforce the presence and importance of cortical degeneration in PD, but also suggest that homocysteine plays a role among the multiple pathological processes thought to be involved in its development., This work was partially supported by funds from CERCA, CIBERNED, la Marató de TV3 (grants #2014/U/477 and #20142910), Fondo de Investigaciones Sanitarias (grants #PI15/00962 and #PI18/01717FIS), Instituto de Salud Carlos III (ISCIII) and Fondo Europeo de Desarrollo Regional (FEDER). MJG receives support from the “Miguel Servet” program [CP19/00031] and a research grant [PI20/00613] from the ISCIII-FEDER. MALE receives support from the VI-PPIT-US project at the University of Seville [USE-20046-J].
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- 2022
31. BDNF Val66Met polymorphism in primary adult-onset dystonia: A case-control study and meta-analysis: 1364
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Gómez-Garre, P., Huertas-Fernández, I., Cáceres-Redondo, M. T., Alonso-Canovas, A., Bernal-Bernal, I., Blanco-Ollero, A., Bonilla-Toribio, M., Burguera, J. A., Carballo, M., Catalán-Alonso, M. J., Escamilla-Sevilla, F., Espinosa-Rosso, R., Fernández-Moreno, M. C., García-Caldentey, J., García-Moreno, J. M., García-Ruiz, P. J., Giacometti-Silveira, S., Gutiérrez-García, J., Maestre, Jesús S., López-Valdés, E., Martínez-Castrillo, J. C., Martínez-Torres, I., Medialdea-Natera, M. P., Méndez-Lucena, C., Mínguez-Castellanos, A., Moya, M., Ochoa-Sepulveda, J. J., Ojea, T., Rodríguez, N., Sillero-Sánchez, M., Vargas-González, L., and Mir, P.
- Published
- 2014
32. Relationship between the MDS-UPDRS domains and the health-related quality of life of Parkinsonʼs disease patients
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Martínez-Martín, P., Rodríguez-Blázquez, C., Forjaz, M. J., Álvarez-Sánchez, M., Arakaki, T., Bergareche-Yarza, A., Chade, A., Garretto, N., Gershanik, O., Kurtis, M. M., Martínez-Castrillo, J. C., Mendoza-Rodríguez, A., Moore, H. P., Rodríguez-Violante, M., Singer, C., Tilley, B. C., Huang, J., Stebbins, G. T., and Goetz, C. G.
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- 2014
- Full Text
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33. Optimized clinical management of Parkinson’s disease with opicapone. Recommendations from Spanish experts
- Author
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Linazasoro-Cristóbal, G., López del Val, L. J., García Ruiz-Espiga, P., López-Manzanares, Lydia, Luquin-Piudo, M. Rosario, Martínez-Castrillo, J. C., Mir, Pablo, and Pagonabarraga-Mora, Javier
- Subjects
Opicapona ,Enfermedad de Parkinson ,Discinesias ,Inhibidores de la catecol-O-metil-transferasa (COMT) ,Fluctuaciones motoras - Abstract
[EN] Motor fluctuations are frequently seen in Parkinson disease patients on chronic treatment with levodopa. Management of motor fluctuation includes the addition of catechol-O-methyl transferase (COMT) inhibitors. Opicapone is a recent and selective third-generation COMT inhibitor which achieves marked increase in the bioavailability of levodopa. We present a consensus of a group of Spanish neurologists with extensive experience in the clinical management of motor fluctuations. The clinical experience of this group of experts is in line with clinical trials and confirms that opicapone is an effective drug in the control of motor fluctuations, regardless of the daily levodopa dose, or the use of other antiparkinsonian drugs. However, in the opinion of these experts, the ideal patient with Parkinson’s disease to initiate treatment with opicapone is the one with mild motor fluctuations, since the ratio between clinical efficacy and adverse effects is more favorable. In general, it is an easy-to-use drug both in those first treated with a COMT inhibitor or those already on entacapone. In any case, the secondary side effects are easily managed., [ES] Las fluctuaciones motoras constituyen una importante complicación en los pacientes con enfermedad de Parkinson tratados con levodopa. Entre las opciones terapéuticas para el manejo de las fluctuaciones motoras se cuenta con los inhibidores de la catecol-O-metil-transferasa (COMT), incluyendo la opicapona. La opicapona muestra una elevada afinidad por la COMT y consigue un aumento marcado de la biodisponibilidad de la levodopa. Se presenta el consenso de un grupo de expertos españoles en la enfermedad de Parkinson con experiencia en el tratamiento clínico de fluctuaciones motoras y el empleo de opicapona. La experiencia de este grupo de expertos, en consonancia con los ensayos clínicos, confirma que la opicapona es un fármaco eficaz en el control de las fluctuaciones motoras de la enfermedad de Parkinson, con independencia de la dosis de levodopa recibida o de la utilización de otros fármacos antiparkinsonianos. No obstante, a juicio de estos expertos, el paciente ideal para iniciar el tratamiento con opicapona es el que presenta fluctuaciones motoras leves, ya que muestra una mejor relación entre eficacia clínica y efectos adversos. En general, la opicapona es un fármaco de fácil manejo, tanto en pacientes que requieren opicapona como primer inhibidor de la COMT como en los previamente tratados con entacapona, o en los que están en tratamiento concomitante con otros fármacos antiparkinsonianos. En cualquier caso, los efectos secundarios son fácilmente corregibles.
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- 2020
34. Management of Parkinson's disease and other movement disorders in woman of childbearing age: Part 1
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García-Ramos, R, Santos-García, D, Alonso-Cánovas, A, Álvarez-Sauco, M, Ares, B, Ávila, A, Caballol, N, Carrillo, F, Escamilla Sevilla, F, Freire, E, Gómez Esteban, J C, Legarda, I, López Manzanares, L, López Valdés, E, Martínez-Torres, I, Mata, M, Pareés, I, Pascual-Sedano, B, Mir, P, and Martínez Castrillo, J C
- Subjects
Adult ,Consensus ,Adolescent ,Embarazo ,Lactancia ,Parkinson's disease ,Breastfeeding ,Parkinson Disease ,Levodopa ,Young Adult ,Neurology ,Enfermedad de Parkinson ,Pregnancy ,Reproductive health ,Salud reproductiva ,Breastfeeding, Embarazo, Enfermedad de Parkinson, Lactancia, Levodopa, Parkinson's disease, Pregnancy, Reproductive health, Salud reproductiva ,Humans ,Female - Abstract
The main challenge of Parkinson's disease in women of childbearing age is managing symptoms and drugs during pregnancy and breastfeeding. The increase in the age at which women are having children makes it likely that these pregnancies will become more common in future. This study aims to define the clinical characteristics of women of childbearing age with Parkinson's disease and the factors affecting their lives, and to establish a series of guidelines for managing pregnancy in these patients. This consensus document was developed through an exhaustive literature search and a discussion of the available evidence by a group of movement disorder experts from the Spanish Society of Neurology. Parkinson's disease affects all aspects of sexual and reproductive health in women of childbearing age. Pregnancy should be well planned to minimise teratogenic risk. A multidisciplinary approach should be adopted in the management of these patients in order to take all relevant considerations into account.
- Published
- 2020
35. Optimización del manejo clínico de opicapona en la enfermedad de Parkinson. Recomendaciones de expertos españoles
- Author
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Linazasoro-Cristóbal, G., López del Val, L. J., García Ruiz-Espiga, P., López-Manzanares, Lydia, Luquin-Piudo, M. Rosario, Martínez-Castrillo, J. C., Mir, Pablo, and Pagonabarraga-Mora, Javier
- Subjects
Opicapona ,Dyskinesias ,Enfermedad de Parkinson ,Discinesias ,Parkinson's disease ,Inhibidores de la catecol-O-metil-transferasa (COMT) ,Catechol-O-methyl transferase inhibitors (COMT) ,Motor fluctuation ,Opicapone ,Fluctuaciones motoras ,nervous system diseases - Abstract
[EN] Motor fluctuations are frequently seen in Parkinson disease patients on chronic treatment with levodopa. Management of motor fluctuation includes the addition of catechol-O-methyl transferase (COMT) inhibitors. Opicapone is a recent and selective third-generation COMT inhibitor which achieves marked increase in the bioavailability of levodopa. We present a consensus of a group of Spanish neurologists with extensive experience in the clinical management of motor fluctuations. The clinical experience of this group of experts is in line with clinical trials and confirms that opicapone is an effective drug in the control of motor fluctuations, regardless of the daily levodopa dose, or the use of other antiparkinsonian drugs. However, in the opinion of these experts, the ideal patient with Parkinson’s disease to initiate treatment with opicapone is the one with mild motor fluctuations, since the ratio between clinical efficacy and adverse effects is more favorable. In general, it is an easy-to-use drug both in those first treated with a COMT inhibitor or those already on entacapone. In any case, the secondary side effects are easily managed. [ES] Las fluctuaciones motoras constituyen una importante complicación en los pacientes con enfermedad de Parkinson tratados con levodopa. Entre las opciones terapéuticas para el manejo de las fluctuaciones motoras se cuenta con los inhibidores de la catecol-O-metil-transferasa (COMT), incluyendo la opicapona. La opicapona muestra una elevada afinidad por la COMT y consigue un aumento marcado de la biodisponibilidad de la levodopa. Se presenta el consenso de un grupo de expertos españoles en la enfermedad de Parkinson con experiencia en el tratamiento clínico de fluctuaciones motoras y el empleo de opicapona. La experiencia de este grupo de expertos, en consonancia con los ensayos clínicos, confirma que la opicapona es un fármaco eficaz en el control de las fluctuaciones motoras de la enfermedad de Parkinson, con independencia de la dosis de levodopa recibida o de la utilización de otros fármacos antiparkinsonianos. No obstante, a juicio de estos expertos, el paciente ideal para iniciar el tratamiento con opicapona es el que presenta fluctuaciones motoras leves, ya que muestra una mejor relación entre eficacia clínica y efectos adversos. En general, la opicapona es un fármaco de fácil manejo, tanto en pacientes que requieren opicapona como primer inhibidor de la COMT como en los previamente tratados con entacapona, o en los que están en tratamiento concomitante con otros fármacos antiparkinsonianos. En cualquier caso, los efectos secundarios son fácilmente corregibles.
- Published
- 2020
36. Non‑motor symptom burden in patients with parkinson’s disease with impulse control disorders and compulsive behaviours: results from the coppADiS cohort
- Author
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Universidad de Sevilla. Departamento de Medicina, Universidad de Sevilla. CTS-630: Trastornos del Movimiento, Jesús, S., Labrador Espinosa, Miguel Ángel, Adarmes, A. D., Méndel del Barrio, C., Martínez Castrillo, J. C., Alonso Cánovas, Araceli, Mir Rivera, Pablo, Universidad de Sevilla. Departamento de Medicina, Universidad de Sevilla. CTS-630: Trastornos del Movimiento, Jesús, S., Labrador Espinosa, Miguel Ángel, Adarmes, A. D., Méndel del Barrio, C., Martínez Castrillo, J. C., Alonso Cánovas, Araceli, and Mir Rivera, Pablo
- Abstract
The study was aimed at analysing the frequency of impulse control disorders (ICDs) and compulsive behaviours (CBs) in patients with Parkinson’s disease (PD) and in control subjects (CS) as well as the relationship between ICDs/CBs and motor, nonmotor features and dopaminergic treatment in PD patients. Data came from COPPADIS‑2015, an observational, descriptive, nationwide (Spain) study. We used the validated Questionnaire for impulsive‑compulsive Disorders in parkinson’s Disease-Rating Scale (QUIP‑RS) for ICD/CB screening. The association between demographic data and ICDs/CBs was analyzed in both groups. In PD, this relationship was evaluated using clinical features and treatment‑related data. As result, 613 PD patients (mean age 62.47 ± 9.09 years, 59.87% men) and 179 CS (mean age 60.84 ± 8.33 years, 47.48% men) were included. ICDs and CBs were more frequent in PD (ICDs 12.7% vs. 1.6%, p < 0.001; CBs 7.18% vs. 1.67%, p = 0.01). PD patients had more frequent previous ICDs history, premorbid impulsive personality and antidepressant treatment (p < 0.05) compared with CS. In PD, patients with ICDs/CBs presented younger age at disease onset, more frequent history of previous ICDs and premorbid personality (p < 0.05), as well as higher comorbidity with nonmotor symptoms, including depression and poor quality of life. Treatment with dopamine agonists increased the risk of ICDs/CBs, being dose dependent (p < 0.05). As conclusions, ICDs and CBs were more frequent in patients with PD than in CS. More nonmotor symptoms were present in patients with PD who had ICDs/CBs compared with those without. Dopamine agonists have a prominent effect on ICDs/CBs, which could be influenced by dose.
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- 2020
37. Non-motor symptom burden in patients with Parkinson’s disease with impulse control disorders and compulsive behaviours: results from the COPPADIS cohort
- Author
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Curemos el Párkinson, Jesús Maestre, Silvia, Labrador, Miguel Ángel, Adarmes Gómez, A. D., Méndel-Del Barrio, C., Martínez-Castrillo, J. C., Alonso Cánovas, Araceli, Sánchez Alonso, Pilar, Novo Ponte, S., Alonso Losada, María G., López-Ariztegui, Nuria, Segundo Rodríguez, J. C., Morales Casado, M. I., Gastón, Itziar, Lacruz, F., Clavero, Pedro, Kulisevsky, Jaime, Pagonabarraga-Mora, Javier, Pascual-Sedano, Berta, Martínez-Martín, Pablo, Santos-García, Diego, Mir, Pablo, Curemos el Párkinson, Jesús Maestre, Silvia, Labrador, Miguel Ángel, Adarmes Gómez, A. D., Méndel-Del Barrio, C., Martínez-Castrillo, J. C., Alonso Cánovas, Araceli, Sánchez Alonso, Pilar, Novo Ponte, S., Alonso Losada, María G., López-Ariztegui, Nuria, Segundo Rodríguez, J. C., Morales Casado, M. I., Gastón, Itziar, Lacruz, F., Clavero, Pedro, Kulisevsky, Jaime, Pagonabarraga-Mora, Javier, Pascual-Sedano, Berta, Martínez-Martín, Pablo, Santos-García, Diego, and Mir, Pablo
- Abstract
The study was aimed at analysing the frequency of impulse control disorders (ICDs) and compulsive behaviours (CBs) in patients with Parkinson’s disease (PD) and in control subjects (CS) as well as the relationship between ICDs/CBs and motor, nonmotor features and dopaminergic treatment in PD patients. Data came from COPPADIS-2015, an observational, descriptive, nationwide (Spain) study. We used the validated Questionnaire for Impulsive-Compulsive Disorders in Parkinson's Disease-Rating Scale (QUIP-RS) for ICD/CB screening. The association between demographic data and ICDs/CBs was analyzed in both groups. In PD, this relationship was evaluated using clinical features and treatment-related data. As result, 613 PD patients (mean age 62.47 ± 9.09 years, 59.87% men) and 179 CS (mean age 60.84 ± 8.33 years, 47.48% men) were included. ICDs and CBs were more frequent in PD (ICDs 12.7% vs. 1.6%, p < 0.001; CBs 7.18% vs. 1.67%, p = 0.01). PD patients had more frequent previous ICDs history, premorbid impulsive personality and antidepressant treatment (p < 0.05) compared with CS. In PD, patients with ICDs/CBs presented younger age at disease onset, more frequent history of previous ICDs and premorbid personality (p < 0.05), as well as higher comorbidity with nonmotor symptoms, including depression and poor quality of life. Treatment with dopamine agonists increased the risk of ICDs/CBs, being dose dependent (p < 0.05). As conclusions, ICDs and CBs were more frequent in patients with PD than in CS. More nonmotor symptoms were present in patients with PD who had ICDs/CBs compared with those without. Dopamine agonists have a prominent effect on ICDs/CBs, which could be influenced by dose.
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- 2020
38. A genetic analysis of a Spanish population with early onset Parkinson’s disease
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Ministerio de Economía y Competitividad (España), Instituto de Salud Carlos III, European Commission, Junta de Andalucía, Sociedad Andaluza de Neurología, Fundación Alicia Koplowitz, Fundación Mutua Madrileña, Universidad de Sevilla, Tejera-Parrado, Cristina, Periñán, María Teresa, Vela-Desojo, Lydia, Abreu-Rodríguez, Irene, Alonso Cánovas, Araceli, Bernal-Bernal, Inmaculada, Bonilla-Toribio, Marta, Buiza-Rueda, Dolores, Catalán, M. J., García-Ramos, Rocío, García-Ruiz, Pedro José, Huertas-Fernández, Ismael, Silva-Rodríguez, Jesús, Labrador, Miguel Ángel, López-Manzanares, Lydia, Martínez-Castrillo, J. C., Posada, Ignacio J., Rojo-Sebastián, Ana, Ruiz-Huete, Cristina, Val, Javier del, Gómez-Garre, Pilar, Ministerio de Economía y Competitividad (España), Instituto de Salud Carlos III, European Commission, Junta de Andalucía, Sociedad Andaluza de Neurología, Fundación Alicia Koplowitz, Fundación Mutua Madrileña, Universidad de Sevilla, Tejera-Parrado, Cristina, Periñán, María Teresa, Vela-Desojo, Lydia, Abreu-Rodríguez, Irene, Alonso Cánovas, Araceli, Bernal-Bernal, Inmaculada, Bonilla-Toribio, Marta, Buiza-Rueda, Dolores, Catalán, M. J., García-Ramos, Rocío, García-Ruiz, Pedro José, Huertas-Fernández, Ismael, Silva-Rodríguez, Jesús, Labrador, Miguel Ángel, López-Manzanares, Lydia, Martínez-Castrillo, J. C., Posada, Ignacio J., Rojo-Sebastián, Ana, Ruiz-Huete, Cristina, Val, Javier del, and Gómez-Garre, Pilar
- Abstract
[Introduction] Both recessive and dominant genetic forms of Parkinson’s disease have been described. The aim of this study was to assess the contribution of several genes to the pathophysiology of early onset Parkinson’s disease in a cohort from central Spain., [Methods/patients] We analyzed a cohort of 117 unrelated patients with early onset Parkinson’s disease using a pipeline, based on a combination of a next-generation sequencing panel of 17 genes previously related with Parkinson’s disease and other Parkinsonisms and CNV screening., [Results] Twenty-six patients (22.22%) carried likely pathogenic variants in PARK2, LRRK2, PINK1, or GBA. The gene most frequently mutated was PARK2, and p.Asn52Metfs*29 was the most common variation in this gene. Pathogenic variants were not observed in genes SNCA, FBXO7, PARK7, HTRA2, DNAJC6, PLA2G6, and UCHL1. Co-occurrence of pathogenic variants involving two genes was observed in ATP13A2 and PARK2 genes, as well as LRRK2 and GIGYF2 genes., [Conclusions] Our results contribute to the understanding of the genetic architecture associated with early onset Parkinson’s disease, showing both PARK2 and LRRK2 play an important role in Spanish Parkinson’s disease patients. Rare variants in ATP13A2 and GIGYF2 may contribute to PD risk. However, a large proportion of genetic components remains unknown. This study might contribute to genetic diagnosis and counseling for families with early onset Parkinson’s disease.
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- 2020
39. COVID-19 in Parkinson’s disease: what holds the key?
- Author
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Sainz-Amo, R., primary, Baena-Álvarez, B., additional, Pareés, I., additional, Sánchez-Díez, G., additional, Pérez-Torre, P., additional, López-Sendón, J. L., additional, Fanjul-Arbos, S., additional, Monreal, E., additional, Corral-Corral, I., additional, García-Barragán, N., additional, Martínez-Castrillo, J. C., additional, Fasano, A., additional, and Alonso-Cánovas, A., additional
- Published
- 2020
- Full Text
- View/download PDF
40. COPPADIS-2015 (COhort of Patients with PArkinson's DIsease in Spain, 2015): an ongoing global Parkinson's disease project about disease progression with more than 1000 subjects included. Results from the baseline evaluation
- Author
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Santos-García, Diego, Jesús Maestre, Silvia, Aguilar Barberá, Miquel, Planellas, Lluís, García Caldentey, Juan, Caballol, Nuria, Legarda, Inés, Hernández-Vara, Jorge, Cabo-Lopez, Iria, López-Manzanares, Lydia, González-Aramburu, Isabel, Ávila-Rivera, María A., Catalán, M. J., López-Díaz, Luis M., Puente, Víctor, García Moreno, J. M., Borrué, Carmen, Solano Vila, B., Álvarez Sauco, María, Vela-Desojo, Lydia, Escalante, Sonia, Cubo, Esther, Carrillo Padilla, Francisco, Martínez-Castrillo, J. C., Sánchez Alonso, Pilar, Alonso Losada, G., López-Ariztegui, Nuria, Gastón, Itziar, Kulisevsky, Jaime, Menéndez-González, Manuel, Seijo-Martínez, Manuel, Ruiz Martínez, Javier, Valero, Caridad, Kurtis, Monica, Fábregues-Boixar, Oriol de, González Ardura, J., Prieto Jurczynska, C., Martínez-Martín, Pablo, and Mir, Pablo
- Subjects
Quality of life ,Non‐motor symptoms ,Parkinson's disease ,Mood ,Gait ,Motor fluctuations - Abstract
[Background and purpose]: In Parkinson's disease (PD ), the course of the disorder is highly variable between patients. Well‐designed, prospective studies for identifying PD progression biomarkers are necessary. Our aim was to show the results of baseline evaluations of an ongoing global PD project, COPPADIS ‐2015 (Co hort of Patients with PA rkinson's DI sease in Spain, 2015)., [Methods]: This was an observational, descriptive, nationwide study (Spain). The recruitment period ended in October 2017. Baseline evaluation included more than 15 validated scales and complementary studies in a subgroup of participants., [Results]: In total, 1174 subjects from 35 centres were considered valid for baseline analysis: 694 patients (62.6 ± 8.9 years old, 60.3% males), 273 caregivers (58.5 ± 11.9 years old, 31.8% males) and 207 controls (61 ± 8.3 years old, 49.5% males). The mean disease duration was 5.5 ± 4.4 years. Hoehn and Yahr stage was 1 or 2 in 90.7% of the patients whilst 33.9% and 18.1% of them presented motor fluctuations and dyskinesias, respectively. The mean Non‐Motor Symptoms Scale total score was 45.4 ± 38.1, and 30.4% of the patients presented cognitive impairment, 16.1% major depression, 12.7% impulse control disorder, 7.2% compulsive behaviour, 57.2% pain and 13.2% falls. Compared to the control group, PD patients presented a significantly higher burden of non‐motor symptoms and a worse quality of life. More than 300 subjects conducted complementary studies (serum biomarkers, genetic and neuroimaging)., [Conclusions]: Parkinson's disease is a complex disorder and different non‐motor symptoms are frequently present and are more prevalent than in controls. In real clinical practice it is important to ask for them.
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- 2019
41. Moving beyond neurons : the role of cell type-specific gene regulation in Parkinson's disease heritability
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Reynolds, R. H., Botía, J., Nalls, M. A., Noyce, A. J., Nicolas, A., Cookson, M. R., Bandres-Ciga, S., Gibbs, J. R., Hernandez, D. G., Singleton, A. B., Reed, X., Leonard, H., Blauwendraat, Cornelis, Faghri, F., Bras, J., Guerreiro, Rita, Tucci, A., Kia, Demis A, Houlden, Henry, Plun-Favreau, H., Mok, K. Y., Wood, N. W., Lovering, R., R'Bibo, L., Rizig, M., Chelban, Viorica, Trabzuni, D., Tan, M., Morris, H. R., Middlehurst, B., Quinn, J., Billingsley, K., Holmans, Peter, Kinghorn, K. J., Lewis, P., Escott-Price, Valentina, Williams, N., Foltynie, T., Brice, Alexis, Danjou, F., Lesage, S., Corvol, Jean-Christophe, Martinez, M., Giri, A., Schulte, C., Brockmann, K., Simón-Sánchez, J., Heutink, Peter, Gasser, Thomas, Rizzu, P., Sharma, M., Shulman, J. M., Robak, L., Lubbe, S., Mencacci, N. E., Finkbeiner, S., Lungu, C., Scholz, S. W., Gan-Or, Z., Rouleau, G. A., Krohan, L., van Hilten, J. J., Marinus, J., Adarmes-Gómez, A.D, Bernal-Bernal, I., Bonilla-Toribio, Marta, Buiza-Rueda, Dolores, Carrillo, F., Carrión-Claro, M., Mir, P., Gómez-Garre, P., Jesús, S., Labrador-Espinosa, Miguel A, Macías-García, Daniel, Vargas-González, L., Méndez-del-Barrio, C., Periñán-Tocino, T., Tejera-Parrado, C., Diez-Fairen, Monica., Aguilar Barberà, Miquel, Alvarez, Ignacio, Boungiorno, M. T., Carcel, M., Pastor, Pau, Tartari, J. P., Alvarez, V., González, M. M., Blázquez Estrada, Marta, Garcia, C.., Suarez-Sanmartin, E., Barrero, F. J., Rezola, E. M., Yarza, J. A. B., Pagola, A. G., de Munain Arregui, A. L., Ruiz-Martínez, J., Cerdan, Debora, Duarte, J., Clarimón, Jordi, Dols Icardo, Oriol, Infante, J., Marín, J., Kulisevsky, Jaime, Pagonabarraga Mora, Javier, Gonzalez-Aramburu, Isabel, Rodriguez, A. S., Sierra, M., Duran, Raquel, Ruz, C., Vives, F., Escamilla-Sevilla, F., Mínguez, A., Cámara, Ana, Compta, Yaroslau, Ezquerra, M., Marti, M. J., Fernández, M., Muñoz García, José Esteban, Fernández Santiago, Rubén, Tolosa, E., Valldeoriola, F., García-Ruiz, P., Heredia, M. J. G., Errazquin, F. P., Hoenicka, J., Jimenez-Escrig, A., Martínez-Castrillo, J. C., Lopez-Sendon, J. L., Torres, I. M., Tabernero, C., Vela, Lydia, Zimprich, Alexander, Pihlstrom, L., Koks, S., Taba, P., Majamaa, K., Siitonen, A., Okubadejo, N. U., Ojo, O. O., Pitcher, T., Anderson, T., Bentley, S., Fowdar, J., Mellick, G., Dalrymple-Alford, J., Henders, Anjali K, Kassam, I., Montgomery, G., Sidorenko, J., Zhang, F., Xue, A., Vallerga, C. L., Wallace, Leanne, Wray, N. R., Yang, J., Visscher, P. M., Gratten, J., Silburn, P. A., Halliday, G., Hickie, Ian B, Kwok, J., Lewis, S., Kennedy, M., Pearson, J., Hardy, J., Gagliano Taliun, S. A., Ryten, Mina, and Universitat Autònoma de Barcelona
- Abstract
Parkinson's disease (PD), with its characteristic loss of nigrostriatal dopaminergic neurons and deposition of α-synuclein in neurons, is often considered a neuronal disorder. However, in recent years substantial evidence has emerged to implicate glial cell types, such as astrocytes and microglia. In this study, we used stratified LD score regression and expression-weighted cell-type enrichment together with several brain-related and cell-type-specific genomic annotations to connect human genomic PD findings to specific brain cell types. We found that PD heritability attributable to common variation does not enrich in global and regional brain annotations or brain-related cell-type-specific annotations. Likewise, we found no enrichment of PD susceptibility genes in brain-related cell types. In contrast, we demonstrated a significant enrichment of PD heritability in a curated lysosomal gene set highly expressed in astrocytic, microglial, and oligodendrocyte subtypes, and in LoF-intolerant genes, which were found highly expressed in almost all tested cellular subtypes. Our results suggest that PD risk loci do not lie in specific cell types or individual brain regions, but rather in global cellular processes detectable across several cell types.
- Published
- 2019
42. Stroke and pulmonary thromboembolism after a long flight
- Author
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Belvís, R., Masjuan, J., García-Barragán, N., Cocho, D., Martí-Fàbregas, J., Santamaría, A., Leta, R. G., Martínez-Castrillo, J. C., Fernández-Ruiz, L. C., Gilo, F., and Martí-Vilalta, J. L.
- Published
- 2005
43. Pallidal stimulation relieves myoclonus–dystonia syndrome
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Magariños-Ascone, C M, Regidor, I, Martínez-Castrillo, J C, Gómez-Galán, M, and Figueiras-Méndez, R
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- 2005
44. The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight
- Author
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National Institutes of Health (US), Department of Defense (US), Michael J. Fox Foundation for Parkinson's Research, Instituto de Salud Carlos III, Ministerio de Economía y Competitividad (España), European Commission, Junta de Andalucía, Sociedad Andaluza de Neurología, Jacques and Gloria Gossweiler Foundation, Fundación Alicia Koplowitz, Fundación Mutua Madrileña, Universidad de Sevilla, Bandres-Ciga, Sara, Ahmed, Sarah, Sabir, Marya S., Blauwendraat, Cornelis, Adarmes Gómez, A. D., Bernal-Bernal, Inmaculada, Bonilla-Toribio, Marta, Buiza-Rueda, Dolores, Carrillo, Fátima, Carrión-Claro, Mario, Gómez-Garre, Pilar, Jesús Maestre, Silvia, Labrador, Miguel Ángel, Macías García, Daniel, Méndez-Del Barrio, Carlota, Periñán, María Teresa, Tejera-Parrado, Cristina, Vargas-González, Laura, Díez-Fairen, Mónica, Álvarez, Ignacio, Tartari, J. P., Buongiorno, Maria Teresa, Aguilar, Miquel, Gorostidi, Ana, Bergareche, Jesús Alberto, Mondragon, Elisabet, Vinagre-Aragon, Ana, Croitoru, Ioana, Ruiz-Martínez, Javier, Dols-Icardo, Oriol, Kulisevsky, Jaime, Marín-Lahoz, Juan, Pagonabarraga-Mora, Javier, Pascual-Sedano, Berta, Ezquerra, Mario, Cámara, Ana, Compta, Yaroslau, Fernández Ortiga, Manel, Fernández-Santiago, Rubén, Muñoz, Esteban, Tolosa, Eduardo, Valldeoriola, Francesc, González-Aramburu, Isabel, Sanchez Rodriguez, Antonio, Sierra, María, Menéndez González, M., Blazquez, Marta, Garcia, Ciara, Suarez-San Martin, Esther, García-Ruíz, Pedro, Martínez-Castrillo, J. C., Vela-Desojo, Lydia, Ruz, Clara, Barrero, Francisco Javier, Escamilla-Sevilla, Francisco, Mínguez-Castellanos, Adolfo, Cerdan, Debora, Tabernero, César, Gomez Heredia, Maria Jose, Perez Errazquin, Francisco, Romero-Acebal, Manolo, Feliz, Cici, López-Sendón, José Luis, Mata, Marina, Martínez Torres, Irene, Kim, Jonggeol Jeffrey, Dalgard, Clifton L., Brooks, Janet, Saez-Atienzar, Sara, Gibbs, J. Raphael, Jorda, Rafael, Botia, Juan A., Bonet-Ponce, Luis, Morrison, Karen E., Clarke, Carl, Tan, Manuela, Morris, Huw, Edsall, Connor, Hernández, Dena, Simón-Sánchez, Javier, Nalls, Michael A., Scholz, Sonja, Jiménez Escrig, Adriano, Duarte, Jacinto, Vives, Francisco, Duran, Raquel, Hoenicka, Janet, Álvarez, Victoria, Infante, Jon, Martí, María-José, Clarimón, Jordi, López de Munain, Adolfo, Pastor, Pau, Mir, Pablo, Singleton, Andrew B., National Institutes of Health (US), Department of Defense (US), Michael J. Fox Foundation for Parkinson's Research, Instituto de Salud Carlos III, Ministerio de Economía y Competitividad (España), European Commission, Junta de Andalucía, Sociedad Andaluza de Neurología, Jacques and Gloria Gossweiler Foundation, Fundación Alicia Koplowitz, Fundación Mutua Madrileña, Universidad de Sevilla, Bandres-Ciga, Sara, Ahmed, Sarah, Sabir, Marya S., Blauwendraat, Cornelis, Adarmes Gómez, A. D., Bernal-Bernal, Inmaculada, Bonilla-Toribio, Marta, Buiza-Rueda, Dolores, Carrillo, Fátima, Carrión-Claro, Mario, Gómez-Garre, Pilar, Jesús Maestre, Silvia, Labrador, Miguel Ángel, Macías García, Daniel, Méndez-Del Barrio, Carlota, Periñán, María Teresa, Tejera-Parrado, Cristina, Vargas-González, Laura, Díez-Fairen, Mónica, Álvarez, Ignacio, Tartari, J. P., Buongiorno, Maria Teresa, Aguilar, Miquel, Gorostidi, Ana, Bergareche, Jesús Alberto, Mondragon, Elisabet, Vinagre-Aragon, Ana, Croitoru, Ioana, Ruiz-Martínez, Javier, Dols-Icardo, Oriol, Kulisevsky, Jaime, Marín-Lahoz, Juan, Pagonabarraga-Mora, Javier, Pascual-Sedano, Berta, Ezquerra, Mario, Cámara, Ana, Compta, Yaroslau, Fernández Ortiga, Manel, Fernández-Santiago, Rubén, Muñoz, Esteban, Tolosa, Eduardo, Valldeoriola, Francesc, González-Aramburu, Isabel, Sanchez Rodriguez, Antonio, Sierra, María, Menéndez González, M., Blazquez, Marta, Garcia, Ciara, Suarez-San Martin, Esther, García-Ruíz, Pedro, Martínez-Castrillo, J. C., Vela-Desojo, Lydia, Ruz, Clara, Barrero, Francisco Javier, Escamilla-Sevilla, Francisco, Mínguez-Castellanos, Adolfo, Cerdan, Debora, Tabernero, César, Gomez Heredia, Maria Jose, Perez Errazquin, Francisco, Romero-Acebal, Manolo, Feliz, Cici, López-Sendón, José Luis, Mata, Marina, Martínez Torres, Irene, Kim, Jonggeol Jeffrey, Dalgard, Clifton L., Brooks, Janet, Saez-Atienzar, Sara, Gibbs, J. Raphael, Jorda, Rafael, Botia, Juan A., Bonet-Ponce, Luis, Morrison, Karen E., Clarke, Carl, Tan, Manuela, Morris, Huw, Edsall, Connor, Hernández, Dena, Simón-Sánchez, Javier, Nalls, Michael A., Scholz, Sonja, Jiménez Escrig, Adriano, Duarte, Jacinto, Vives, Francisco, Duran, Raquel, Hoenicka, Janet, Álvarez, Victoria, Infante, Jon, Martí, María-José, Clarimón, Jordi, López de Munain, Adolfo, Pastor, Pau, Mir, Pablo, and Singleton, Andrew B.
- Abstract
Background: The Iberian Peninsula stands out as having variable levels of population admixture and isolation, making Spain an interesting setting for studying the genetic architecture of neurodegenerative diseases. Objectives: To perform the largest PD genome-wide association study restricted to a single country. Methods: We performed a GWAS for both risk of PD and age at onset in 7,849 Spanish individuals. Further analyses included population-specific risk haplotype assessments, polygenic risk scoring through machine learning, Mendelian randomization of expression, and methylation data to gain insight into disease-associated loci, heritability estimates, genetic correlations, and burden analyses. Results: We identified a novel population-specific genome-wide association study signal at PARK2 associated with age at onset, which was likely dependent on the c.155delA mutation. We replicated four genome-wide independent signals associated with PD risk, including SNCA, LRRK2, KANSL1/MAPT, and HLA-DQB1. A significant trend for smaller risk haplotypes at known loci was found compared to similar studies of non-Spanish origin. Seventeen PD-related genes showed functional consequence by two-sample Mendelian randomization in expression and methylation data sets. Long runs of homozygosity at 28 known genes/loci were found to be enriched in cases versus controls. Conclusions: Our data demonstrate the utility of the Spanish risk haplotype substructure for future fine-mapping efforts, showing how leveraging unique and diverse population histories can benefit genetic studies of complex diseases. The present study points to PARK2 as a major hallmark of PD etiology in Spain.
- Published
- 2019
45. Botulinum toxin in a taskspecific oromandibular dystonia in a bingo caller
- Author
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Díaz-Sánchez, M. and Martínez-Castrillo, J. C.
- Published
- 2008
- Full Text
- View/download PDF
46. Non-motor symptom burden in patients with Parkinson's disease with impulse control disorders and compulsive behaviours: results from the COPPADIS cohort.
- Author
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Jesús, S., Labrador-Espinosa, M. A., Adarmes, A. D., Méndel-Del Barrio, C., Martínez-Castrillo, J. C., Alonso-Cánovas, A., Sánchez Alonso, P., Novo-Ponte, S., Alonso-Losada, M. G., López Ariztegui, N., Segundo Rodríguez, J. C., Morales, M. I., Gastón, I., Lacruz Bescos, F., Clavero Ibarra, P., Kulisevsky, J., Pagonabarraga, J., Pascual-Sedano, B., Martínez-Martín, P., and Santos-García, D.
- Subjects
DOPAMINE agonists ,IMPULSE control disorders ,COMPULSIVE behavior ,PARKINSON'S disease treatment ,DATA analysis - Abstract
The study was aimed at analysing the frequency of impulse control disorders (ICDs) and compulsive behaviours (CBs) in patients with Parkinson's disease (PD) and in control subjects (CS) as well as the relationship between ICDs/CBs and motor, nonmotor features and dopaminergic treatment in PD patients. Data came from COPPADIS-2015, an observational, descriptive, nationwide (Spain) study. We used the validated Questionnaire for Impulsive-Compulsive Disorders in Parkinson's Disease-Rating Scale (QUIP-RS) for ICD/CB screening. The association between demographic data and ICDs/CBs was analyzed in both groups. In PD, this relationship was evaluated using clinical features and treatment-related data. As result, 613 PD patients (mean age 62.47 ± 9.09 years, 59.87% men) and 179 CS (mean age 60.84 ± 8.33 years, 47.48% men) were included. ICDs and CBs were more frequent in PD (ICDs 12.7% vs. 1.6%, p < 0.001; CBs 7.18% vs. 1.67%, p = 0.01). PD patients had more frequent previous ICDs history, premorbid impulsive personality and antidepressant treatment (p < 0.05) compared with CS. In PD, patients with ICDs/CBs presented younger age at disease onset, more frequent history of previous ICDs and premorbid personality (p < 0.05), as well as higher comorbidity with nonmotor symptoms, including depression and poor quality of life. Treatment with dopamine agonists increased the risk of ICDs/CBs, being dose dependent (p < 0.05). As conclusions, ICDs and CBs were more frequent in patients with PD than in CS. More nonmotor symptoms were present in patients with PD who had ICDs/CBs compared with those without. Dopamine agonists have a prominent effect on ICDs/CBs, which could be influenced by dose. [ABSTRACT FROM AUTHOR]
- Published
- 2020
- Full Text
- View/download PDF
47. Consensus statement on deep brain stimulation in Parkinson's disease | Documento de consenso sobre estimulación cerebral profunda en la enfermedad de Parkinson
- Author
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Guridi, J., García-Ruiz, P. J., Rodríguez-Oroz, M. C., Valldeoriola, F., Del Álamo, M., Alberdi, J. A., Albisua, J., Aparicio, M. A., Ayerbe, J., Barcia, J. A., Bilbao, G., Botella, C., Catalán, M. J., Castro, A., Fàbregues, O., Figueiras, R., Sola, R. G., García-March, G., García-Navarrete, E., García-Salazar, F., Gelabert, M., Guisasola, L., Katati, M., Kulisevsky, J., Lainez, J. M., Lezcano, E., Manrique, M., Martínez, R., Martínez-Castrillo, J. C., Mínguez, A., Pablo Mir, Molet, J., Montero, J. M., Muñiz Igneson, J., Muñoz, J., Obeso, J., Oliver, M., Paz, J. F., Ramos, E., Regidor, I., Robaina, F. J., Roldán, P., Rumià, J., Salvador-Aliaga, A., Salvador, C., Seijo, F., Sesar, A., and Torres, C.
48. The effectiveness of Botulinum toxin Type A in two cases of abdominal myoclonias refractory to conventional therapy [3] | Eficacia de la toxina botulínica tipo a en dos casos de mioclonías abdominales refractarios a la terapia convencional
- Author
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Vivancos-Matellano, F., Arpa-Gutiérrez, F. J., Pérez-Conde, M. C., Rafael Del Río Villegas, and Martínez-Castrillo, J. C.
49. Creation and standardized longitudinal follow-up of a cohort of patients with de novo Parkinson's disease: The VIP project | Creación y protocolo de seguimiento longitudinal de una cohorte multipropósito de pacientes con enfermedad de Parkinson de reciente diagnóstico: Proyecto VIP
- Author
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Linazasoro, G., Martínez-Martín, P., Kulisevski, J., Aguilar, M., Valldeoriola, F., Rojo, A., Blercom, N., Vela, L., Bergaretxe, A., Luquin, R., Castro, A., Sesar, A., Menéndez-Guisasola, L., Salvador, C., Blázquez, M., González, S., Fernández, J. M., López Del Val, J., Miquel, F., Bayés, A., Burguera, J. A., Chacón, J., Durán, C., Martínez-Castrillo, J. C., García-Ruiz, P., Duarte, J., Mendoza, A., Rodríguez, F., Vivancos, F., Pondal, M., Vaamonde, J., Benito-León, J., Campos, V., García-Muñozguren, S., Catalán, M. J., Palomino, A., Pablo Mir, Carballo, M., Minguez, A., Ortega, A., Leiva, C., Álvarez, M., Posada, I., Balseiro, J., Cubo, E., Frades, B., Forjaz, J., and Arroyo, S.
50. Botulism with sensory symptoms: a second case.
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Martínez-Castrillo, J C, Del Real, M A, Hernandez Gonzalez, A, De Blas, G, and Alvarez-Cermeño, J C
- Published
- 1991
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