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1. Cognitive impairment and dementia in young onset Parkinson’s disease

Author

Santos-García, Diego, de Deus Fonticoba, Teresa, Cores Bartolomé, Carlos, Feal Painceiras, María J., García Díaz, Iago, Íñiguez Alvarado, María Cristina, Paz, Jose Manuel, Jesús, Silvia, Cosgaya, Marina, García Caldentey, Juan, Caballol, Nuria, Legarda, Ines, Hernández Vara, Jorge, Cabo, Iria, López Manzanares, Lydia, González Aramburu, Isabel, Ávila Rivera, Maria A., Gómez Mayordomo, Víctor, Nogueira, Víctor, Dotor García-Soto, Julio, Borrué, Carmen, Solano Vila, Berta, Álvarez Sauco, María, Vela, Lydia, Escalante, Sonia, Cubo, Esther, Mendoza, Zebenzui, Martínez Castrillo, Juan C., Sánchez Alonso, Pilar, Alonso Losada, Maria G., López Ariztegui, Nuria, Gastón, Itziar, Kulisevsky, Jaime, Seijo, Manuel, Valero, Caridad, Alonso Redondo, Ruben, Buongiorno, Maria Teresa, Ordás, Carlos, Menéndez-González, Manuel, McAfee, Darrian, Martinez-Martin, Pablo, and Mir, Pablo

Published
2023
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2. Prevalence and Factors Associated with Drooling in Parkinson’s Disease: Results from a Longitudinal Prospective Cohort and Comparison with a Control Group

Author

Santos-García, Diego, primary, de Deus Fonticoba, Teresa, additional, Cores Bartolomé, Carlos, additional, Feal Painceiras, Maria J., additional, Íñiguez-Alvarado, Maria Cristina, additional, Jesús, Silvia, additional, Buongiorno, Maria Teresa, additional, Planellas, Lluís, additional, Cosgaya, Marina, additional, García Caldentey, Juan, additional, Caballol, Nuria, additional, Legarda, Ines, additional, Hernández Vara, Jorge, additional, Cabo, Iria, additional, López Manzanares, Lydia, additional, González Aramburu, Isabel, additional, Ávila Rivera, Maria A., additional, Gómez Mayordomo, Víctor, additional, Nogueira, Víctor, additional, Puente, Víctor, additional, Dotor García-Soto, Julio, additional, Borrué, Carmen, additional, Solano Vila, Berta, additional, Álvarez Sauco, María, additional, Vela, Lydia, additional, Escalante, Sonia, additional, Cubo, Esther, additional, Carrillo Padilla, Francisco, additional, Martínez Castrillo, Juan C., additional, Sánchez Alonso, Pilar, additional, Alonso Losada, Maria G., additional, López Ariztegui, Nuria, additional, Gastón, Itziar, additional, Kulisevsky, Jaime, additional, Blázquez Estrada, Marta, additional, Seijo, Manuel, additional, Rúiz Martínez, Javier, additional, Valero, Caridad, additional, Kurtis, Mónica, additional, de Fábregues, Oriol, additional, González Ardura, Jessica, additional, Alonso Redondo, Ruben, additional, Ordás, Carlos, additional, López Díaz, Luis M. L., additional, McAfee, Darrian, additional, Martinez-Martin, Pablo, additional, Mir, Pablo, additional, and COPPADIS, Study Group, additional

Published
2023
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3. Suicidal ideation among people with Parkinson's disease and comparison with a control group

Author

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

Abstract

[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.

Published
2023

4. Sex Differences in Motor and Non-Motor Symptoms among Spanish Patients with Parkinson's Disease

Author

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.

Published
2023

5. Silla e la generazione postsillana: una fedeltà controversa

Author

Pierangelo Buongiorno, Maria Teresa Schettino, Zecchini, Giuseppe, Giuseppe Zecchini (ORCID:0000-0003-3266-4074), Pierangelo Buongiorno, Maria Teresa Schettino, Zecchini, Giuseppe, and Giuseppe Zecchini (ORCID:0000-0003-3266-4074)

Abstract

After Sulla the optimates were persuaded that the so-called Sullan consitution was the best possible; hence their principal aim was stopping any even small change; to avoid this danger the last resource was civil war they were confident to win; therefore 50 BC they wanted to force Caesar to the arms

Published
2023

6. Staging Parkinson’s Disease According to the MNCD (Motor/Non-motor/Cognition/Dependency) Classification Correlates with Disease Severity and Quality of Life

Author

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.

Published
2023

7. Mendelian Randomisation Confirms the Role of Y-Chromosome Loss in Alzheimer’s Disease Aetiopathogenesis in Men

Author

Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas (España), Instituto de Salud Carlos III, Ministerio de Ciencia, Innovación y Universidades (España), Agencia Estatal de Investigación (España), Ace Alzheimer Center Barcelona, Grifols, Fundación la Caixa, European Commission, European Alzheimer's Disease DNA BioBank, García-González, Pablo, Rojas, Itziar de, Moreno-Grau, Sonia, Montrreal, Laura, Puerta, Raquel, Alarcón-Martín, Emilio, Quintela, Inés, Orellana, Adela, Andrade, Victor, Martino-Adami, Pamela V., Heilmann-Heimbach, Stefanie, Gómez-Garre, Pilar, Periñán, María Teresa, Álvarez, Ignacio, Díez-Fairen, Mónica, Nuñez-Llaves, Raul, Olivé-Roig, Claudia, García-Ribas, Guillermo, Menéndez-González, Manuel, Martínez, Carmen, Aguilar Barberá, Miquel, Buongiorno, Maria Teresa, Franco-Macías, Emilio, Sáez, María Eugenia, Cano, Amanda, Bullido, María Jesús, Real, Luis Miguel, Rodríguez-Rodríguez, Eloy, Royo, José Luis, Álvarez, Victoria, Pastor, Pau, Piñol-Ripoll, Gerard, Mir, Pablo, Calero, Miguel, Medina-Padilla, Miguel, Sánchez-Juan, Pascual, Carracedo, Ángel, Valero, Sergi, Hernández, Isabel, Tárraga, Lluís, Ramírez, Alfredo, Boada, Mercè, Ruiz, Agustín, Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas (España), Instituto de Salud Carlos III, Ministerio de Ciencia, Innovación y Universidades (España), Agencia Estatal de Investigación (España), Ace Alzheimer Center Barcelona, Grifols, Fundación la Caixa, European Commission, European Alzheimer's Disease DNA BioBank, García-González, Pablo, Rojas, Itziar de, Moreno-Grau, Sonia, Montrreal, Laura, Puerta, Raquel, Alarcón-Martín, Emilio, Quintela, Inés, Orellana, Adela, Andrade, Victor, Martino-Adami, Pamela V., Heilmann-Heimbach, Stefanie, Gómez-Garre, Pilar, Periñán, María Teresa, Álvarez, Ignacio, Díez-Fairen, Mónica, Nuñez-Llaves, Raul, Olivé-Roig, Claudia, García-Ribas, Guillermo, Menéndez-González, Manuel, Martínez, Carmen, Aguilar Barberá, Miquel, Buongiorno, Maria Teresa, Franco-Macías, Emilio, Sáez, María Eugenia, Cano, Amanda, Bullido, María Jesús, Real, Luis Miguel, Rodríguez-Rodríguez, Eloy, Royo, José Luis, Álvarez, Victoria, Pastor, Pau, Piñol-Ripoll, Gerard, Mir, Pablo, Calero, Miguel, Medina-Padilla, Miguel, Sánchez-Juan, Pascual, Carracedo, Ángel, Valero, Sergi, Hernández, Isabel, Tárraga, Lluís, Ramírez, Alfredo, Boada, Mercè, and Ruiz, Agustín

Abstract

Mosaic loss of chromosome Y (mLOY) is a common ageing-related somatic event and has been previously associated with Alzheimer’s disease (AD). However, mLOY estimation from genotype microarray data only reflects the mLOY degree of subjects at the moment of DNA sampling. Therefore, mLOY phenotype associations with AD can be severely age-confounded in the context of genome-wide association studies. Here, we applied Mendelian randomisation to construct an age-independent mLOY polygenic risk score (mloy-PRS) using 114 autosomal variants. The mloy-PRS instrument was associated with an 80% increase in mLOY risk per standard deviation unit (p = 4.22 × 10−20) and was orthogonal with age. We found that a higher genetic risk for mLOY was associated with faster progression to AD in men with mild cognitive impairment (hazard ratio (HR) = 1.23, p = 0.01). Importantly, mloy-PRS had no effect on AD conversion or risk in the female group, suggesting that these associations are caused by the inherent loss of the Y chromosome. Additionally, the blood mLOY phenotype in men was associated with increased cerebrospinal fluid levels of total tau and phosphorylated tau181 in subjects with mild cognitive impairment and dementia. Our results strongly suggest that mLOY is involved in AD pathogenesis.

Published
2023

8. Staging Parkinson's disease according to the MNCD classification correlates with caregiver burden

Author

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.

Published
2023

9. Cognitive impairment and dementia in young onset Parkinson’s disease

Author

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.

Published
2023

10. Changes in Principal Caregiver Mood Affects the Mood of the Parkinson’s Disease Patient: The Vicious Cycle of Illness

Author

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.

Published
2023

11. Prevalence and Factors Associated with Drooling in Parkinson’s Disease: Results from a Longitudinal Prospective Cohort and Comparison with a Control Group

Author

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.

Published
2023

12. Staging Parkinson's Disease According to the MNCD (Motor/Non-motor/Cognition/Dependency) Classification Correlates with Disease Severity and Quality of Life.

Author

Santos-García, Diego, de Deus Fonticoba, Teresa, Cores Bartolomé, Carlos, Feal Painceiras, Maria J., Íñiguez-Alvarado, Maria Cristina, García Díaz, Iago, Jesús, Silvia, Buongiorno, Maria Teresa, Planellas, Lluís, Cosgaya, Marina, García Caldentey, Juan, Caballol, Nuria, Legarda, Ines, Hernández Vara, Jorge, Cabo, Iria, López Manzanares, Lydia, González Aramburu, Isabel, Ávila Rivera, Maria A., Gómez Mayordomo, Víctor, and Nogueira, Víctor

Subjects
PARKINSON'S disease, NOSOLOGY, QUALITY of life, MOVEMENT disorders, ACTIVITIES of daily living, DISEASE duration
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. [ABSTRACT FROM AUTHOR]

Published
2023
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13. Changes in Principal Caregiver Mood Affects the Mood of the Parkinson's Disease Patient: The Vicious Cycle of Illness.

Author

Santos-García, Diego, de Deus Fonticoba, Teresa, Cores Bartolomé, Carlos, Feal Painceiras, Maria J., Íñiguez-Alvarado, Maria Cristina, García Díaz, Iago, Jesús, Silvia, Buongiorno, Maria Teresa, Planellas, Lluís, Cosgaya, Marina, García Caldentey, Juan, Caballol, Nuria, Legarda, Ines, Hernández Vara, Jorge, Cabo, Iria, López Manzanares, Lydia, González Aramburu, Isabel, Ávila Rivera, Maria A., Gómez Mayordomo, Víctor, and Nogueira, Víctor

Subjects
PARKINSON'S disease, CAREGIVERS, SERVICES for caregivers, APATHY, NEUROLEPTIC malignant syndrome, BURDEN of care, ALZHEIMER'S disease, PEARSON correlation (Statistics), MOVEMENT disorders
Abstract

The change in caregiver's mood influences the change in patient's mood ( BDI-II; in bright green) whereas the change in caregiver's global QoL is associated to the change in patient's global QoL ( EUROHIS-QOL8; in bright yellow). Keywords: Caregiver; longitudinal; mood; Parkinson's disease; quality of life EN Caregiver longitudinal mood Parkinson's disease quality of life 219 231 13 04/04/23 20230401 NES 230401 INTRODUCTION Parkinson's disease (PD) is a progressive neurodegenerative disorder causing motor and non-motor symptoms (NMS) that result in loss of patient autonomy for activities of daily-living (ADL) and quality of life (QoL) [[1]]. PD patient assessment In PD subjects, information on sociodemographic aspects, factors related to PD, comorbidity, and treatment was collected at baseline (visit V0) and at 2 years±1 month (visit V2). [Extracted from the article]

Published
2023
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14. Genome-Wide Association Study of VKORC1 and CYP2C9 on acenocoumarol dose, stroke recurrence and intracranial haemorrhage in Spain

Author

International Stroke Genetics Consortium, Consorcio español de genética del ictus, Redes Temáticas de Investigación Cooperativa en Salud (España), Cullell, Nàtalia, Carrera, Caty, Muiño, Elena, Torres-Águila, Nuria P., Cárcel-Márquez, Jara, González-Sánchez, Jonathan, Gallego-Fabrega, Cristina, Molina, Jessica, Besora, Sarah, Sotoca, Javier, Buongiorno, Maria Teresa, Jiménez-Conde, Jordi, Giralt-Steinhauer, Eva, Torres-Chacón, Reyes de, Montaner, Joan, Mancha, Fernando, Cabezas, Juan A., Marti-Fabregas, Joan, Prats-Sánchez, Luis, Camps-Renom, Pol, Purroy, Francisco, Cambray, Serafí, Freijo, Mar, Vives-Bauzá, Cristòfol, Tur, Sílvia, Font, Maria A., López-Cancio, Elena, Hernández-Pérez, María, Obach, Víctor, Calleja, Ana, Arenillas, Juan F., Rodríguez-Yáñez, Manuel, Castillo, José, Sobrino, Tomás, Fernández-Cadenas, Israel, Krupinski, Jerzy, International Stroke Genetics Consortium, Consorcio español de genética del ictus, Redes Temáticas de Investigación Cooperativa en Salud (España), Cullell, Nàtalia, Carrera, Caty, Muiño, Elena, Torres-Águila, Nuria P., Cárcel-Márquez, Jara, González-Sánchez, Jonathan, Gallego-Fabrega, Cristina, Molina, Jessica, Besora, Sarah, Sotoca, Javier, Buongiorno, Maria Teresa, Jiménez-Conde, Jordi, Giralt-Steinhauer, Eva, Torres-Chacón, Reyes de, Montaner, Joan, Mancha, Fernando, Cabezas, Juan A., Marti-Fabregas, Joan, Prats-Sánchez, Luis, Camps-Renom, Pol, Purroy, Francisco, Cambray, Serafí, Freijo, Mar, Vives-Bauzá, Cristòfol, Tur, Sílvia, Font, Maria A., López-Cancio, Elena, Hernández-Pérez, María, Obach, Víctor, Calleja, Ana, Arenillas, Juan F., Rodríguez-Yáñez, Manuel, Castillo, José, Sobrino, Tomás, Fernández-Cadenas, Israel, and Krupinski, Jerzy

Abstract

Acenocoumarol is an oral anticoagulant with significant interindividual dose variations. Variants in CYP2C9 and VKORC1 have been associated with acenocoumarol maintenance dose. We analysed whether any of the 49 polymorphisms in CYP2C9 and VKORC1 previously associated with acenocoumarol maintenance dose in a Genome-Wide Association study (GWAs) in Dutch population are associated with stroke recurrence, intracranial haemorrhage (ICH) and acenocoumarol maintenance dose in a Spanish population. We performed a GWAs using Human Core Exome-chip (Illumina) in 78 patients stroke patients treated with acenocoumarol for secondary prevention enrolled as part of the prospective investigator-initiated study (IIS) SEDMAN Study. Patients were followed-up a median of 12.8 months. Three and eight patients had recurrent stroke and ICH events, respectively. We found 14 of the 49 published variants associated with acenocoumarol maintenance dose (p < 0.05). Six polymorphisms were associated with stroke recurrence and four variants with ICH (p < 0.05). In conclusion, variants in VKORC1 and CYP2C9 are associated with acenocoumarol maintenance dose, stroke recurrence and ICH in a Spanish cohort. These results highlight the relevance of studying pharmacogenetics associated with efficacy and safety of anticoagulant drugs and justify studies with larger sample size and different ethnic populations.

Published
2020

15. Genome-Wide Association Study of VKORC1 and CYP2C9 on acenocoumarol dose, stroke recurrence and intracranial haemorrhage in Spain

Author

Cullell, Natalia, primary, Carrera, Caty, additional, Muiño, Elena, additional, Torres-Aguila, Nuria-Paz, additional, Cárcel-Márquez, Jara, additional, González-Sánchez, Jonathan, additional, Gallego-Fabrega, Cristina, additional, Molina, Jessica, additional, Besora, Sarah, additional, Sotoca, Javier, additional, Buongiorno, Maria-Teresa, additional, Jiménez-Conde, Jordi, additional, Giralt-Steinhauer, Eva, additional, de Torres-Chacón, Reyes, additional, Montaner, Joan, additional, Mancha, Fernando, additional, Cabezas, Juan A, additional, Martí-Fàbregas, Joan, additional, Prats-Sánchez, Luis, additional, Camps-Renom, Pol, additional, Purroy, Francisco, additional, Cambray, Serafi, additional, Freijo, María del Mar, additional, Vives-Bauzá, Cristòfol, additional, Tur, Silvia, additional, Font, Maria-Àngels, additional, López-Cancio, Elena, additional, Hernandez-Perez, Maria, additional, Obach, Victor, additional, Calleja, Ana, additional, Arenillas, Juan, additional, Rodríguez-Yáñez, Manuel, additional, Castillo, José, additional, Sobrino, Tomas, additional, Fernández-Cádenas, Israel, additional, and Krupinski, Jerzy, additional

Published
2020
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16. The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight

Author

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

18. Genome-Wide Association Study of VKORC1 and CYP2C9 on acenocoumarol dose, stroke recurrence and intracranial haemorrhage in Spain

Author

Cullell, Natalia, Carrera, Caty, Muiño, Elena, Torres-Aguila, Nuria-Paz, Cárcel-Márquez, Jara, González-Sánchez, Jonathan, Gallego Fabrega, Cristina, Molina, Jessica, Besora, Sarah, Sotoca, Javier, Buongiorno, Maria-Teresa, Jiménez-Conde, Jordi, Giralt-Steinhauer, Eva, de Torres-Chacón, Reyes, Montaner, Joan, Mancha, Fernando, Cabezas, Juan A., Martí Fàbregas, Joan, Prats Sánchez, Luis, Camps Renom, Pol, Purroy Garcia, Francisco, Cambray Carner, Serafí, Freijo, María del Mar, Vives-Bauzá, Cristòfol, Tur, Silvia, Font, Maria-Àngels, López-Cancio, Elena, Hernandez-Perez, Maria, Obach, Victor, Calleja, Ana, Arenillas, Juan, Rodríguez-Yáñez, Manuel, Castillo, José, Sobrino, Tomas, Fernández-Cádenas, Israel, and Krupinski, Jerzy

Subjects
Anticoagulants (Medicina), Hemorràgia cerebral, Ictus

19. Levodopa-Induced Dyskinesias are Frequent and Impact Quality of Life in Parkinson's Disease: A 5-Year Follow-Up Study.

Author

Santos-García D, de Deus T, Cores C, Feal Painceiras MJ, Íñiguez Alvarado MC, Samaniego LB, López Maside A, Jesús S, Cosgaya M, García Caldentey J, Caballol N, Legarda I, Hernández-Vara J, Cabo López I, López Manzanares L, González-Aramburu I, Ávila A, Gómez-Mayordomo V, Nogueira V, Dotor García-Soto J, Borrué-Fernández C, Solano B, Álvarez Sauco M, Vela L, Escalante S, Cubo E, Mendoza Z, Pareés I, Sánchez Alonso P, Alonso Losada MG, López-Ariztegui N, Gastón I, Kulisevsky J, Seijo M, Valero C, Alonso Redondo R, Buongiorno MT, Ordás C, Menéndez-González M, McAfee D, Martinez-Martin P, and Mir P

Subjects
Humans, Male, Female, Middle Aged, Aged, Follow-Up Studies, Severity of Illness Index, Levodopa adverse effects, Parkinson Disease drug therapy, Quality of Life, Dyskinesia, Drug-Induced epidemiology, Dyskinesia, Drug-Induced etiology, Antiparkinson Agents adverse effects
Abstract

Background: Levodopa-induced dyskinesias (LID) are frequent in Parkinson's disease (PD)., Objective: To analyze the change in the frequency of LID over time, identify LID related factors, and characterize how LID impact on patients' quality of life (QoL)., Patients and Methods: PD patients from the 5-year follow-up COPPADIS cohort were included. LID were defined as a non-zero score in the item "Time spent with dyskinesia" of the Unified Parkinson's Disease Rating Scale-part IV (UPDRS-IV). The UPDRS-IV was applied at baseline (V0) and annually for 5 years. The 39-item Parkinson's disease Questionnaire Summary Index (PQ-39SI) was used to asses QoL., Results: The frequency of LID at V0 in 672 PD patients (62.4 ± 8.9 years old; 60.1% males) with a mean disease duration of 5.5 ± 4.3 years was 18.9% (127/672) and increased progressively to 42.6% (185/434) at 5-year follow-up (V5). The frequency of disabling LID, painful LID, and morning dystonia increased from 6.9%, 3.3%, and 10.6% at V0 to 17.3%, 5.5%, and 24% at V5, respectively. Significant independent factors associated with LID (P < 0.05) were a longer disease duration and time under levodopa treatment, a higher dose of levodopa, a lower weight and dose of dopamine agonist, pain severity and the presence of motor fluctuations. LID at V0 (β = 0.073; P = 0.027; R 2  = 0.62) and to develop disabling LID at V5 (β = 0.088; P = 0.009; R 2  = 0.73) were independently associated with a higher score on the PDQ-39SI., Conclusion: LID are frequent in PD patients. A higher dose of levodopa and lower weight were factors associated to LID. LID significantly impact QoL., (© 2024 International Parkinson and Movement Disorder Society.)

Published
2024
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20. Staging Parkinson's disease according to the MNCD classification correlates with caregiver burden.

Author

Santos-García D, de Deus Fonticoba T, Cores Bartolomé C, Feal Painceiras MJ, García Díaz I, Alvarado MCÍ, Paz JM, Jesús S, Cosgaya M, Caldentey JG, Caballol N, Legarda I, Hernández Vara J, Cabo I, López Manzanares L, González Aramburu I, Ávila Rivera MA, Gómez Mayordomo V, Nogueira V, Dotor García-Soto J, Borrué C, Solano Vila B, Álvarez Sauco M, Vela L, Escalante S, Cubo E, Mendoza Z, Martínez Castrillo JC, Sánchez Alonso P, Alonso Losada MG, López Ariztegui N, Gastón I, Kulisevsky J, Seijo M, Valero C, Alonso Redondo R, Buongiorno MT, Ordás C, Menéndez-González M, McAfee D, Martinez-Martin P, and Mir P

Subjects
Male, Female, Humans, Middle Aged, Aged, Quality of Life, Caregiver Burden, Cross-Sectional Studies, Caregivers, Parkinson Disease
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., (© 2023 The Authors. Brain and Behavior published by Wiley Periodicals LLC.)

Published
2023
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