Search

Your search keyword '"Vela, Lydia"' showing total 191 results
Start Over Author "Vela, Lydia"
191 results on '"Vela, Lydia"'

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
Full Text
View/download PDF

2. Smoking is associated with age at disease onset in Parkinson's disease

Author

Adarmes-Gómez, Astrid D., Aguilar, Miquel, Alvarez, Ignacio, Barrero, Francisco Javier, Bergareche Yarza, Jesús Alberto, Bonilla-Toribio, Marta, Botía, Juan A., Boungiorno, María Teresa, Buiza-Rueda, Dolores, Cámara, Ana, Carrillo, Fátima, Cerdan, Debora, Clarimón, Jordi, Compta, Yaroslau, Diez-Fairen, Monica, Dols-Icardo, Oriol, de Fabregues, Oriol, Cartagena, Pilar Sanz, Duarte, Jacinto, Duran, Raquel, Escamilla-Sevilla, Francisco, Ezquerra, Mario, Feliz, Cici, Fernández-Santiago, Rubén, Fernández, Manel, García-Ruiz, Pedro, Gómez-Garre, Pilar, Gomez Heredia, Maria Jose, Gonzalez-Aramburu, Isabel, Gorostidi, Ana, Hoenicka, Janet, Infante, Jon, Jesús, Silvia, Jimenez-Escrig, Adriano, Kulisevsky, Jaime, Labrador-Espinosa, Miguel A., Lopez-Sendon, Jose Luis, López de Munain, Adolfo, Macias-Garcia, Daniel, Martínez-Torres, Irene, Marín, Juan, Marti, Maria Jose, Martínez-Castrillo, Juan Carlos, Álvarez-Santullano, Marina Mata, Mínguez-Castellanos, Adolfo, Mir, Pablo, Rezola, Elisabet Mondragon, Muñoz, Esteban, Pagonabarraga, Javier, Pastor, Pau, Errazquin, Francisco Perez, Periñán, Maria Teresa, Ruiz-Martínez, Javier, Ruz, Clara, Rodriguez, Antonio Sanchez, Sierra, María, Tabernero, Cesar, Tartari, Juan Pablo, Tolosa, Eduard, Valldeoriola, Francesc, Vela, Lydia, Vives, Francisco, Pascual-Sedano, Berta, Hernández-Vara, Jorge, Rolán, Dolores Vilas, Bandrés-Ciga, Sara, Rosas, Irene, Morís, Germán, Coto, Eliecer, Blázquez-Estrada, Marta, Suárez, Esther, García-Fernández, Ciara, Martínez, Carmen, Herrera, Israel Duarte, Pérez-Oliveira, Sergio, Álvarez, Victoria, and Menéndez-González, Manuel

Published
2022
Full Text
View/download PDF

3. Cognitive Reserve in Parkinson's Disease without Dementia: β‐Amyloid and Metabolic Assessment

Author

Fernández‐Rodríguez, Beatriz, primary, Rodríguez‐Rojas, Rafael, additional, Guida, Pasqualina, additional, Angulo‐Díaz‐Parreño, Santiago, additional, Trompeta, Clara, additional, Mata‐Marín, David, additional, Obeso, Ignacio, additional, Vela, Lydia, additional, Plaza de las Heras, Isabel, additional, Obeso, José A., additional, and Gasca‐Salas, Carmen, additional

Published
2024
Full Text
View/download PDF

4. Predictors of clinically significant quality of life impairment in Parkinson’s disease

Author

D., Santos García, de Deus Fonticoba, Teresa, Cores, Carlos, Muñoz, Guillermo, Paz González, Jose M., Martínez Miró, Cristina, Suárez, Ester, Jesús, Silvia, Aguilar, Miquel, Pastor, Pau, Planellas, Lluis, Cosgaya, Marina, García Caldentey, Juan, Caballol, Nuria, Legarda, Inés, Hernández Vara, Jorge, Cabo, Iria, López Manzanares, Luis, González Aramburu, Isabel, Ávila Rivera, María A., Catalán, Maria 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, Juan C., Sánchez Alonso, Pilar, Alonso Losada, Maria G., López Ariztegui, Nuria, Gastón, Itziar, Clavero, Pedro, Kulisevsky, Jaime, Blázquez Estrada, Marta, Seijo, Manuel, Rúiz Martínez, Javier, Valero, Caridad, Kurtis, Mónica, de Fábregues, Oriol, González Ardura, Jessica, Ordás, Carlos, López Díaz, Luis M., McAfee, Darrian, Martinez-Martin, Pablo, and Mir, Pablo

Published
2021
Full Text
View/download PDF

5. Identifying comorbidities and lifestyle factors contributing to the cognitive profile of early Parkinson’s disease

Author

Martínez-Horta, Saul, Bejr-Kasem, Helena, Horta-Barba, Andrea, Pascual-Sedano, Berta, Santos-García, Diego, de Deus-Fonticoba, Teresa, Jesús, Silvia, Aguilar, Miquel, Planellas, Lluis, García-Caldentey, Juan, Caballol, Nuria, Vives-Pastor, Bárbara, Hernández-Vara, Jorge, Cabo-Lopez, Iria, López-Manzanares, Lydia, González-Aramburu, Isabel, Ávila-Rivera, Maria Asunción, Catalán, Maria Jose, López-Díaz, Luis Manuel, Puente, Victor, García-Moreno, Jose Manuel, Borrué, Carmen, Solano-Vila, Berta, Álvarez-Sauco, Maria, Vela, Lydia, Escalante, Sonia, Cubo, Esther, Carrillo-Padilla, Francisco, Martínez-Castrillo, Juan Carlos, Sánchez-Alonso, Pilar, Alonso-Losada, Maria Gema, López-Ariztegui, Nuria, Gastón, Itziar, Blázquez-Estrada, Marta, Seijo-Martínez, Manual, Rúiz-Martínez, Javier, Valero-Merino, Caridad, Kurtis, Monica, de Fábregues-Boixar, Oriol, González-Ardura, Jessica, Prieto-Jurczynska, Cristina, Martinez-Martin, Pablo, Mir, Pablo, and Kulisevsky, Jaime

Published
2021
Full Text
View/download PDF

6. Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies

Author

Adarmes-Gómez, Astrid D, Aguilar, Miquel, Aitkulova, Akbota, Akhmetzhanov, Vadim, Alcalay, Roy N, Alvarez, Ignacio, Alvarez, Victoria, Bandres-Ciga, Sara, Barrero, Francisco Javier, Bergareche Yarza, Jesús Alberto, Bernal-Bernal, Inmaculada, Billingsley, Kimberley, Blauwendraat, Cornelis, Blazquez, Marta, Bonilla-Toribio, Marta, Botía, Juan A, Boungiorno, María Teresa, Bras, Jose, Brice, Alexis, Brockmann, Kathrin, Bubb, Vivien, Buiza-Rueda, Dolores, Cámara, Ana, Carrillo, Fátima, Carrión-Claro, Mario, Cerdan, Debora, Chelban, Viorica, Clarimón, Jordi, Clarke, Carl, Compta, Yaroslau, Cookson, Mark R, Corvol, Jean-Christophe, Craig, David W, Danjou, Fabrice, Diez-Fairen, Monica, Dols-Icardo, Oriol, Duarte, Jacinto, Duran, Raquel, Escamilla-Sevilla, Francisco, Escott-Price, Valentina, Ezquerra, Mario, Faghri, Faraz, Feliz, Cici, Fernández, Manel, Fernández-Santiago, Rubén, Finkbeiner, Steven, Foltynie, Thomas, Gan-Or, Ziv, Garcia, Ciara, García-Ruiz, Pedro, Gasser, Thomas, Gibbs, J Raphael, Gomez Heredia, Maria Jose, Gómez-Garre, Pilar, González, Manuel Menéndez, Gonzalez-Aramburu, Isabel, Guelfi, Sebastian, Guerreiro, Rita, Hardy, John, Hassin-Baer, Sharon, Hernandez, Dena G, Heutink, Peter, Hoenicka, Janet, Holmans, Peter, Houlden, Henry, Infante, Jon, Iwaki, Hirotaka, Jesús, Silvia, Jimenez-Escrig, Adriano, Kaishybayeva, Gulnaz, Kaiyrzhanov, Rauan, Karimova, Altynay, Kia, Demis A, Kinghorn, Kerri J, Koks, Sulev, Krohn, Lynne, Kulisevsky, Jaime, Labrador-Espinosa, Miguel A, Leonard, Hampton L, Lesage, Suzanne, Lewis, Patrick, Lopez-Sendon, Jose Luis, Lovering, Ruth, Lubbe, Steven, Lungu, Codrin, Macias, Daniel, Majamaa, Kari, Manzoni, Claudia, Marín, Juan, Marinus, Johan, Marti, Maria Jose, Martinez, Maria, Martínez Torres, Irene, Martínez-Castrillo, Juan Carlos, Mata, Marina, Mencacci, Niccolo E, Méndez-del-Barrio, Carlota, Middlehurst, Ben, Mínguez, Adolfo, Mir, Pablo, Mok, Kin Y, Morris, Huw R, Muñoz, Esteban, Nalls, Mike A, Narendra, Derek, Noyce, Alastair J, Ojo, Oluwadamilola O, Okubadejo, Njideka U, Pagola, Ana Gorostidi, Pastor, Pau, Perez Errazquin, Francisco, Periñán-Tocino, Teresa, Pihlstrom, Lasse, Plun-Favreau, Helene, Quinn, John, R'Bibo, Lea, Reed, Xylena, Rezola, Elisabet Mondragon, Rizig, Mie, Rizzu, Patrizia, Robak, Laurie, Rodriguez, Antonio Sanchez, Rouleau, Guy A, Ruiz-Martínez, Javier, Ruz, Clara, Ryten, Mina, Sadykova, Dinara, Scholz, Sonja W, Schreglmann, Sebastian, Schulte, Claudia, Sharma, Manu, Shashkin, Chingiz, Shulman, Joshua M, Sierra, María, Siitonen, Ari, Simón-Sánchez, Javier, Singleton, Andrew B, Suarez-Sanmartin, Esther, Taba, Pille, Tabernero, Cesar, Tan, Manuela X, Tartari, Juan Pablo, Tejera-Parrado, Cristina, Toft, Mathias, Tolosa, Eduard, Trabzuni, Daniah, Valldeoriola, Francesc, van Hilten, Jacobus J, Van Keuren-Jensen, Kendall, Vargas-González, Laura, Vela, Lydia, Vives, Francisco, Williams, Nigel, Wood, Nicholas W, Zharkinbekova, Nazira, Zharmukhanov, Zharkyn, Zholdybayeva, Elena, Zimprich, Alexander, Ylikotila, Pauli, Shulman, Lisa M., von Coelln, Rainer, Reich, Stephen, Savitt, Joseph, Agee, Michelle, Alipanahi, Babak, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Fontanillas, Pierre, Furlotte, Nicholas A., Huber, Karen E., Hicks, Barry, Jewett, Ethan M., Jiang, Yunxuan, Kleinman, Aaron, Lin, Keng-Han, Litterman, Nadia K., McCreight, Jennifer C., McIntyre, Matthew H., McManus, Kimberly F., Mountain, Joanna L., Noblin, Elizabeth S., Northover, Carrie A.M., Pitts, Steven J., Poznik, G. David, Sathirapongsasuti, J. Fah, Shelton, Janie F., Shringarpure, Suyash, Tian, Chao, Tung, Joyce, Vacic, Vladimir, Wang, Xin, Wilson, Catherine H., Anderson, Tim, Bentley, Steven, Dalrymple-Alford, John, Fowdar, Javed, Gratten, Jacob, Halliday, Glenda, Henders, Anjali K., Hickie, Ian, Kassam, Irfahan, Kennedy, Martin, Kwok, John, Lewis, Simon, Mellick, George, Montgomery, Grant, Pearson, John, Pitcher, Toni, Sidorenko, Julia, Silburn, Peter A., Vallerga, Costanza L., Visscher, Peter M., Wallace, Leanne, Wray, Naomi R., Xue, Angli, Yang, Jian, Zhang, Futao, Vallerga, Costanza L, Heilbron, Karl, Chang, Diana, Tan, Manuela, Young, Emily, Pihlstrøm, Lasse, Leonard, Hampton, Botia, Juan A, Jankovic, Joseph, Shulman, Lisa M, Sutherland, Margaret, Tienari, Pentti, Andreassen, Ole A, Bangale, Tushar, Hinds, David A, Hardy, John A, Visscher, Peter M, and Graham, Robert R

Published
2019
Full Text
View/download PDF

8. Response to levodopa in Parkinson's disease over time. A 4-year follow-up study

Author

Santos-García, Diego, primary, de Deus Fonticoba, Teresa, additional, Cores Bartolomé, Carlos, additional, Feal Painceiras, María J., additional, García Díaz, Iago, additional, Íñiguez Alvarado, María Cristina, additional, Paz, Jose Manuel, additional, Jesús, Silvia, additional, Cosgaya, Marina, additional, García Caldentey, Juan, additional, Caballol, Nuria, additional, Legarda, Ines, additional, González Aramburu, Isabel, additional, Ávila Rivera, Maria A., additional, Gómez Mayordomo, Víctor, additional, Vela, Lydia, additional, Escalante, Sonia, additional, Mendoza, Zebenzui, additional, Martínez Castrillo, Juan C., additional, Alonso, Pilar Sánchez, additional, Alonso Losada, Maria G., additional, López Ariztegui, Nuria, additional, McAfee, Darrian, additional, Martinez-Martin, Pablo, additional, and Mir, Pablo, additional

Published
2023
Full Text
View/download PDF

9. Brain hypometabolism in non‐demented microtubule‐associated protein tau H1 carriers with Parkinson's disease

Author

Gasca‐Salas, Carmen, primary, Trompeta, Clara, additional, López‐Aguirre, Miguel, additional, Rodríguez Rojas, Rafael, additional, Clarimon, Jordi, additional, Dols‐Icardo, Oriol, additional, El Bounasri, Shaimaa, additional, Guida, Pasqualina, additional, Mata‐Marín, David, additional, Hernández‐Fernández, Frida, additional, Marras, Connie, additional, García‐Cañamaque, Lina, additional, Plaza de las Heras, Isabel, additional, Obeso, Ignacio, additional, Vela, Lydia, additional, and Fernández‐Rodríguez, Beatriz, additional

Published
2023
Full Text
View/download PDF

12. 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
Full Text
View/download PDF

13. 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

14. 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

15. Falls Predict Acute Hospitalization in Parkinson's Disease

Author

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.

Published
2023

16. Risk of Cognitive Impairment in Patients With Parkinson’s Disease With Visual Hallucinations and Subjective Cognitive Complaints

Author

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.

Published
2023

17. 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

18. Brain hypometabolism in non-demented microtubule-associated protein tau H1 carriers with Parkinson's disease

Author

Siemens Healthcare, Fundación de Investigación HM Hospitales, Gasca-Salas, Carmen, Trompeta, Clara, López-Aguirre, Miguel, Rodríguez Rojas, Rafael, Clarimon, Jordi, Dols-Icardo, Oriol, El Bounasri, Shaimaa, Guida, Pasqualina, Mata-Marín, David, Hernández-Fernández, Frida, Marras, Connie, García-Cañamaque, Lina, Plaza de Las Heras, Isabel, Obeso, Ignacio, Vela, Lydia, Fernández-Rodríguez, Beatriz, Siemens Healthcare, Fundación de Investigación HM Hospitales, Gasca-Salas, Carmen, Trompeta, Clara, López-Aguirre, Miguel, Rodríguez Rojas, Rafael, Clarimon, Jordi, Dols-Icardo, Oriol, El Bounasri, Shaimaa, Guida, Pasqualina, Mata-Marín, David, Hernández-Fernández, Frida, Marras, Connie, García-Cañamaque, Lina, Plaza de Las Heras, Isabel, Obeso, Ignacio, Vela, Lydia, and Fernández-Rodríguez, Beatriz

Abstract

The microtubule-associated protein tau (MAPT) H1 homozygosity (H1/H1 haplotype) is a genetic risk factor for neurodegenerative diseases, such as Parkinson's disease (PD). MAPT H1 homozygosity has been associated with conversion to PD; however, results are conflicting since some studies did not find a strong influence. Cortical hypometabolism is associated with cognitive impairment in PD. In this study, we aimed to evaluate the metabolic pattern in nondemented PD patients MAPT H1/H1 carriers in comparison with MAPT H1/H2 haplotype. In addition, we evaluated domain-specific cognitive differences according to MAPT haplotype.

Published
2023

19. 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

20. 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

21. 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

22. 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

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

Author

Santos-García, Diego, Laguna, Ariadna, Hernández-Vara, Jorge, Fonticoba, Teresa de Deus, Bartolomé, Carlos Cores, Painceiras, Maria J. Feal, Íñiguez-Alvarado, Maria Cristina, Díaz, Iago García, Jesús, Silvia, Boungiorno, Maria Teresa, Planellas, Lluís, Cosgaya, Marina, Caldentey, Juan García, Caballol, Nuria, Legarda, Ines, Cabo, Iria, Manzanares, Lydia López, Aramburu, Isabel González, Rivera, Maria A. Ávila, Mayordomo, Víctor Gómez, Nogueira, Víctor, Puente, Víctor, García-Soto, Julio Dotor, Borrué, Carmen, Vila, Berta Solano, Sauco, María Álvarez, Vela, Lydia, Escalante, Sonia, Cubo, Esther, Padilla, Francisco Carrillo, Castrillo, Juan C. Martínez, Alonso, Pilar Sánchez, Losada, Maria G. Alonso, Ariztegui, Nuria López, Gastón, Itziar, Kulisevsky, Jaime, González, Manuel Menéndez, Seijo, Manuel, Martínez, Javier Rúiz, Valero, Caridad, Kurtis, Mónica, Ardura, Jessica González, Redondo, Ruben Alonso, Ordás, Carlos, Díaz, Luis M. López, McAfee, Darrian, Martinez-Martin, Pablo, Mir, Pablo, Group, on behalf of the COPPADIS Study, Institut Català de la Salut, [Santos-García D, Cores Bartolomé C, Feal Painceiras MJ] Department of Neurology, CHUAC, Complejo Hospitalario Universitario de A Coruña, A Coruña, Spain. [Laguna A, Hernández-Vara J] Grup de Recerca de Malalties Neurodegeneratives, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. CIBERNED (Centro de Investigación Biomédica en Red Enfermedades Neurodegenerativas), Madrid, Spain. [de Deus Fonticoba T] CHUF, Complejo Hospitalario Universitario de Ferrol, Ferrol, Spain, and Vall d'Hebron Barcelona Hospital Campus

Subjects
ambiente y salud pública::salud pública::factores epidemiológicos::factores sexuales [ATENCIÓN DE SALUD], Parkinson's disease, General Medicine, Environment and Public Health::Public Health::Epidemiologic Factors::Sex Factors [HEALTH CARE], non-motor symptoms, motor, Parkinson, Malaltia de - Factors sexuals, Environment and Public Health::Public Health::Epidemiologic Measurements::Demography::Health Status::Quality of Life [HEALTH CARE], 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, gender, Parkinson’s disease, Factors sexuals en les malalties, Sex factors in disease, sex, Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Basal Ganglia Diseases::Parkinsonian Disorders::Parkinson Disease [DISEASES], Qualitat de vida - Avaluació, ambiente y salud pública::salud pública::medidas epidemiológicas::demografía::estado de salud::calidad de vida [ATENCIÓN DE SALUD]
Abstract

Parkinson’s disease; Non-motor symptoms; Sex Malaltia de Parkinson Símptomes no motors; Sexe Enfermedad de Parkinson; Síntomas no motores; Sexo 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: 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. COPPADIS and the present study were developed with the help of Fundación Española de Ayuda a la Investigación en Enfermedades Neurodegenerativas y/o de Origen Genético ( https://fundaciondegen.org/) and Alpha Bioresearch (www.alphabioresearch.com). Also, we received grants from the Spanish Ministry of Economy and Competitiveness [PI16/01575] co-founded by ISCIII (Concesión de subvenciones de Proyectos de Investigación en Salud de la convocatoria 2020 de la Acción Estratégica en Salud 2017–2020 por el proyecto “PROGRESIÓN NO MOTORA E IMPACTO EN LA CALIDAD DE VIDA EN LA ENFERMEDAD DE PARKINSON”) to develop a part of the COPPADIS project.

Published
2023

26. Parkinson's Disease Motor Subtypes Change with the Progression of the Disease: Results from the COPPADIS Cohort at 2-Year Follow-Up

Author

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.

Published
2022

28. Smoking is associated with age at disease onset in Parkinson's disease

Author

Rosas, Irene, primary, Morís, Germán, additional, Coto, Eliecer, additional, Blázquez-Estrada, Marta, additional, Suárez, Esther, additional, García-Fernández, Ciara, additional, Martínez, Carmen, additional, Herrera, Israel Duarte, additional, Pérez-Oliveira, Sergio, additional, Álvarez, Victoria, additional, Menéndez-González, Manuel, additional, Adarmes-Gómez, Astrid D., additional, Aguilar, Miquel, additional, Alvarez, Ignacio, additional, Barrero, Francisco Javier, additional, Bergareche Yarza, Jesús Alberto, additional, Bonilla-Toribio, Marta, additional, Botía, Juan A., additional, Boungiorno, María Teresa, additional, Buiza-Rueda, Dolores, additional, Cámara, Ana, additional, Carrillo, Fátima, additional, Cerdan, Debora, additional, Clarimón, Jordi, additional, Compta, Yaroslau, additional, Diez-Fairen, Monica, additional, Dols-Icardo, Oriol, additional, de Fabregues, Oriol, additional, Cartagena, Pilar Sanz, additional, Duarte, Jacinto, additional, Duran, Raquel, additional, Escamilla-Sevilla, Francisco, additional, Ezquerra, Mario, additional, Feliz, Cici, additional, Fernández-Santiago, Rubén, additional, Fernández, Manel, additional, García-Ruiz, Pedro, additional, Gómez-Garre, Pilar, additional, Gomez Heredia, Maria Jose, additional, Gonzalez-Aramburu, Isabel, additional, Gorostidi, Ana, additional, Hoenicka, Janet, additional, Infante, Jon, additional, Jesús, Silvia, additional, Jimenez-Escrig, Adriano, additional, Kulisevsky, Jaime, additional, Labrador-Espinosa, Miguel A., additional, Lopez-Sendon, Jose Luis, additional, López de Munain, Adolfo, additional, Macias-Garcia, Daniel, additional, Martínez-Torres, Irene, additional, Marín, Juan, additional, Marti, Maria Jose, additional, Martínez-Castrillo, Juan Carlos, additional, Álvarez-Santullano, Marina Mata, additional, Mínguez-Castellanos, Adolfo, additional, Mir, Pablo, additional, Rezola, Elisabet Mondragon, additional, Muñoz, Esteban, additional, Pagonabarraga, Javier, additional, Pastor, Pau, additional, Errazquin, Francisco Perez, additional, Periñán, Maria Teresa, additional, Ruiz-Martínez, Javier, additional, Ruz, Clara, additional, Rodriguez, Antonio Sanchez, additional, Sierra, María, additional, Tabernero, Cesar, additional, Tartari, Juan Pablo, additional, Tolosa, Eduard, additional, Valldeoriola, Francesc, additional, Vela, Lydia, additional, Vives, Francisco, additional, Pascual-Sedano, Berta, additional, Hernández-Vara, Jorge, additional, Rolán, Dolores Vilas, additional, and Bandrés-Ciga, Sara, additional

Published
2022
Full Text
View/download PDF

29. Predictors of the change in burden, strain, mood, and quality of life among caregivers of Parkinson's disease patients

Author

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

Subjects
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.

Published
2022

30. Finding genetically-supported drug targets for Parkinson’s disease using Mendelian randomization of the druggable genome

Author

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

Subjects
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.

Published
2021

34. Diplopia Is Frequent and Associated with Motor and Non-Motor Severity in Parkinson’s Disease: Results from the COPPADIS Cohort at 2-Year Follow-Up

Author

Santos García, Diego, primary, Naya Ríos, Lucía, additional, de Deus Fonticoba, Teresa, additional, Cores Bartolomé, Carlos, additional, García Roca, Lucía, additional, Feal Painceiras, Maria, additional, Martínez Miró, Cristina, additional, Canfield, Hector, additional, Jesús, Silvia, additional, Aguilar, Miquel, additional, Pastor, Pau, additional, Cosgaya, Marina, additional, García Caldentey, Juan, additional, Caballol, Nuria, additional, Legarda, Inés, additional, Hernández Vara, Jorge, additional, Cabo, Iria, additional, López Manzanares, Lydia, additional, González Aramburu, Isabel, additional, Ávila Rivera, María A., additional, Gómez Mayordomo, Víctor, additional, Nogueira, Víctor, additional, Puente, Víctor, additional, Dotor, 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., additional, McAfee, Darrian, additional, Martinez-Martin, Pablo, additional, and Mir, Pablo, additional

Published
2021
Full Text
View/download PDF

35. 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

Author

García, Diego Santos, Fonticoba, Teresa de Deus, Bartolomé, Carlos Cores, Ríos, Lucía Naya, Roca, Lucía García, Miró, Cristina Martínez, Canfield, Hector, Jesús, Silvia, Aguilar, Miquel, Pastor, Pau, Cosgaya, Marina, Caldentey, Juan García, Caballol, Nuria, Legarda, Inés, Vara, Jorge Hernández, Cabo, Iria, Manzanares, Lydia López, Aramburu, Isabel González, Rivera, María A. Ávila, Mayordomo, Víctor Gómez, Nogueira, Víctor, Puente, Víctor, Dotor, Julio, Borrué, Carmen, Vila, Berta Solano, Sauco, María Álvarez, Vela, Lydia, Escalante, Sonia, Cubo, Esther, Padilla, Francisco Carrillo, Castrillo, Juan C. Martínez, Alonso, Pilar Sánchez, Losada, Maria G. Alonso, Ariztegui, Nuria López, Gastón, Itziar, Kulisevsky, Jaime, Estrada, Marta Blázquez, Seijo, Manuel, Martínez, Javier Rúiz, Valero, Caridad, Kurtis, Mónica, Fábregues, Oriol de, Ardura, Jessica González, Redondo, Ruben Alonso, Ordás, Carlos, Díaz, Luis M. López, McAfee, Darrian, Martinez-Martin, Pablo, Mir, Pablo, Group, COPPADIS Study Group COPPADIS Study, Institut Català de la Salut, [Santos García D, Cores Bartolomé C, Naya Ríos L, García Roca L, Martínez Miró C] CHUAC, Complejo Hospitalario Universitario de A Coruña, 15006 A Coruña, Spain. [de Deus Fonticoba T] 2 CHUF, Complejo Hospitalario Universitario de Ferrol, 15405 A Coruña, Spain. [Hernández Vara J, de Fábregues O] Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, and Curemos el Párkinson

Subjects
Medicine (General), medicine.medical_specialty, Discapacitats, Parkinson's disease, Activities of daily living, Parkinson, Malaltia de - Complicacions, Parkinson, Malaltia de - Prognosi, Clinical Biochemistry, Dependency, Disease, gait, Article, Hosmer–Lemeshow test, Otros calificadores::Otros calificadores::/complicaciones [Otros calificadores], R5-920, enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::enfermedades de los ganglios basales::trastornos parkinsonianos::enfermedad de Parkinson [ENFERMEDADES], Internal medicine, Medicine, Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Disease Progression [DISEASES], Gait, Disability, business.industry, medicine.disease, Control subjects, afecciones patológicas, signos y síntomas::procesos patológicos::atributos de la enfermedad::progresión de la enfermedad [ENFERMEDADES], disability, enfermedades del sistema nervioso::manifestaciones neurológicas::trastornos neurológicos de la marcha [ENFERMEDADES], Cohort, Parkinson’s disease, Functional independence, Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Basal Ganglia Diseases::Parkinsonian Disorders::Parkinson Disease [DISEASES], activities of daily living, business, dependency, Nervous System Diseases::Neurologic Manifestations::Gait Disorders, Neurologic [DISEASES], Other subheadings::Other subheadings::/complications [Other subheadings]
Abstract

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 &amp, England Activities of Daily Living Scale (S&amp, E-ADLS) at V0 and V2. FD was defined as an S&amp, E-ADLS score less than 80%. Results: In the PD group, a significant decrease in the S&amp, E-ADLS score from V0 to V2 (N = 507, from 88.58 ± 10.19 to 84.26 ± 13.38, p &lt, 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, 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, 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.

Published
2021

37. 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, 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, Juan C., Sánchez Alonso, Pilar, Alonso Losada, Maria 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, Ruben, Ordás, Carlos, López Díaz, Luis M., McAfee, Darrian, Calopa, Matilde, Carrillo, Fátima, Escamilla Sevilla, Francisco, Freire-Alvarez, Eric, Gómez Esteban, Juan Carlos, García Ramos, Rocío, Luquín, María Rosario Isabel, Martínez-Torres, Irene, Sesar Ignacio, Ángel, Martinez-Martin, Pablo, and Mir, Pablo

Abstract

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). 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. 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). 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. 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
Full Text
View/download PDF

38. 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, 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, Juan C., Sánchez Alonso, Pilar, Alonso Losada, Maria G., López Ariztegui, Nuria, Gastón, Itziar, Kulisevsky, Jaime, Menéndez González, Manuel, Seijo, Manuel, Rúiz Martínez, Javier, Valero, Caridad, Kurtis, Mónica, González Ardura, Jessica, Alonso Redondo, Ruben, Ordás, Carlos, López Díaz, Luis M., McAfee, Darrian, Martinez-Martin, Pablo, and Mir, Pablo

Published
2023
Full Text
View/download PDF

39. Staging Parkinson's Disease Combining Motor and Nonmotor Symptoms Correlates with Disability and Quality of Life

Author

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

Subjects
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.

Published
2021

40. Identification of candidate parkinson disease genes by integrating genome-wide association study, expression, and epigenetic data sets

Author

Kia, Demis A., Zhang, David, Guelfi, Sebastian, Manzoni, Claudia, Hubbard, Leon, Reynolds, Regina H., Botía, Juan, Ryten, Mina, Ferrari, Raffaele, Lewis, Patrick A., Williams, Nigel, Trabzuni, Daniah, Hardy, John, Wood, Nicholas W., Noyce, Alastair J., Kaiyrzhanov, Rauan, Middlehurst, Ben, Tan, Manuela, Houlden, Henry, Morris, Huw R., Plun-Favreau, Helene, Holmans, Peter, Bras, Jose, PhD, John Quinn, Mok, Kin Y., Kinghorn, Kerri J., Billingsley, Kimberley, Lewis, Patrick, Schreglmann, Sebastian, Guerreiro, Rita, Lovering, Ruth, R'Bibo, Lea, Rizig, Mie, Escott-Price, Valentina, Chelban, Viorica, Foltynie, Thomas, Brice, Alexis, Danjou, Fabrice, Lesage, Suzanne, Corvol, Jean-Christophe, Martinez, Maria, Schulte, Claudia, Brockmann, Kathrin, Simón-Sánchez, Javier, Heutink, Peter, Rizzu, Patrizia, Sharma, Manu, Gasser, Thomas, Nicolas, Aude, Cookson, Mark R., Bandres-Ciga, Sara, Blauwendraat, Cornelis, Craig, David W., Faghri, Faraz, Gibbs, J. Raphael, Hernandez, Dena G., Van Keuren-Jensen, Kendall, Shulman, Joshua M., Leonard, Hampton L., Nalls, Mike A., Robak, Laurie, Lubbe, Steven, Finkbeiner, Steven, Mencacci, Niccolo E., Lungu, Codrin, Singleton, Andrew B, Scholz, Sonja W., Reed, Xylena, Alcalay, Roy N., Gan-Or, Ziv, Rouleau, Guy A., Krohn, Lynne, van Hilten, Jacobus J., Marinus, Johan, Adarmes-Gómez, Astrid D., Aguilar, Miquel, Alvarez, Ignacio, Alvarez, Victoria, Javier Barrero, Francisco, Bergareche Yarza, Jesús A., Bernal-Bernal, Inmaculada, Blazquez, Marta, Bonilla-Toribio, Marta, Botía, Juan A., Boungiorno, María T., Buiza-Rueda, Dolores, Càmara, Ana, Carrillo, Fátima, Carrión-Claro, Mario, Cerdan, Debora, Clarimón, Jordi, Compta, Yaroslau, Diez-Fairen, Monica, Dols-Icardo, Oriol, Duarte, Jacinto, Duran, Raquel, Escamilla-Sevilla, Francisco, Ezquerra, Mario, Feliz, Cici, Fernàndez, Manel, Fernàndez-Santiago, Rubén, Garcia, Ciara, García-Ruiz, Pedro, Gómez-Garre, Pilar, Gomez Heredia, Maria J., Gonzalez-Aramburu, Isabel, Pagola, Ana G., Hoenicka, Janet, Infante, Jon, Jimenez-Escrig, Adriano, Kulisevsky, Jaime, Labrador-Espinosa, Miguel A., Lopez-Sendon, Jose Luis, Arregui, Adolfo López de Munain, Macias, Daniel, Torres, Irene Martínez, Marín, Juan, Marti, Maria Jose, Martínez-Castrillo, Juan Carlos, Mèndez-del-Barrio, Carlota, González, Manuel Menéndez, Adolfo Mínguez, Marina Mata, Mir, Pablo, Rezola, Elisabet Mondragon, Muñoz, Esteban, Pagonabarraga, Javier, Pastor, Pau, Errazquin, Francisco Perez, Perinán-Tocino, Teresa, Ruiz-Martínez, Javier, Ruz, Clara, Rodriguez, Antonio Sanchez, Sierra, María, Suarez-Sanmartin, Esther, Tabernero, Cesar, Tartari, Juan Pablo, Tejera-Parrado, Cristina, Tolosa, Eduard, Valldeoriola, Francesc, Vargas-González, Laura, Vela, Lydia, Vives, Francisco, Zimprich, Alexander, Pihlstrom, Lasse, Toft, Mathias, Koks, Sulev, Taba, Pille, Hassin-Baer, Sharon, Weale, Michael, Ramasamy, Adaikalavan, Smith, Colin, Guelfi, Manuel Sebastian, D'sa, Karishma, Forabosco, Paola, Botiá, Juan A., and Universidad de Cantabria

Subjects
Candidate gene, Protein catabolic process, Gene Expression, Genome-wide association study, Computational biology, Biology, Epigenesis, Genetic, 03 medical and health sciences, 0302 clinical medicine, Databases, Genetic, Humans, Online First, 030212 general & internal medicine, Epigenetics, Gene, Genetic Association Studies, Genetic association, Original Investigation, Research, Parkinson Disease, Protein ubiquitination, Neurology (clinical), Candidate Disease Gene, 030217 neurology & neurosurgery, Comments, Genome-Wide Association Study
Abstract

Key Points Question What genes and genomic processes underlie risk of sporadic Parkinson disease? Findings This genetic association study integrated Parkinson disease genome-wide association study data and brain-derived gene regulation data using various complementary bioinformatic tools and identified 11 candidate genes with evidence of disease-associated regulatory changes. Coexpression and protein level analyses of these genes demonstrated a significant functional association with known mendelian Parkinson disease genes. Meaning This study suggests that gene regulation data may be used to identify candidate genes and pathways involved in sporadic Parkinson disease., Importance Substantial genome-wide association study (GWAS) work in Parkinson disease (PD) has led to the discovery of an increasing number of loci shown reliably to be associated with increased risk of disease. Improved understanding of the underlying genes and mechanisms at these loci will be key to understanding the pathogenesis of PD. Objective To investigate what genes and genomic processes underlie the risk of sporadic PD. Design and Setting This genetic association study used the bioinformatic tools Coloc and transcriptome-wide association study (TWAS) to integrate PD case-control GWAS data published in 2017 with expression data (from Braineac, the Genotype-Tissue Expression [GTEx], and CommonMind) and methylation data (derived from UK Parkinson brain samples) to uncover putative gene expression and splicing mechanisms associated with PD GWAS signals. Candidate genes were further characterized using cell-type specificity, weighted gene coexpression networks, and weighted protein-protein interaction networks. Main Outcomes and Measures It was hypothesized a priori that some genes underlying PD loci would alter PD risk through changes to expression, splicing, or methylation. Candidate genes are presented whose change in expression, splicing, or methylation are associated with risk of PD as well as the functional pathways and cell types in which these genes have an important role. Results Gene-level analysis of expression revealed 5 genes (WDR6 [OMIM 606031], CD38 [OMIM 107270], GPNMB [OMIM 604368], RAB29 [OMIM 603949], and TMEM163 [OMIM 618978]) that replicated using both Coloc and TWAS analyses in both the GTEx and Braineac expression data sets. A further 6 genes (ZRANB3 [OMIM 615655], PCGF3 [OMIM 617543], NEK1 [OMIM 604588], NUPL2 [NCBI 11097], GALC [OMIM 606890], and CTSB [OMIM 116810]) showed evidence of disease-associated splicing effects. Cell-type specificity analysis revealed that gene expression was overall more prevalent in glial cell types compared with neurons. The weighted gene coexpression performed on the GTEx data set showed that NUPL2 is a key gene in 3 modules implicated in catabolic processes associated with protein ubiquitination and in the ubiquitin-dependent protein catabolic process in the nucleus accumbens, caudate, and putamen. TMEM163 and ZRANB3 were both important in modules in the frontal cortex and caudate, respectively, indicating regulation of signaling and cell communication. Protein interactor analysis and simulations using random networks demonstrated that the candidate genes interact significantly more with known mendelian PD and parkinsonism proteins than would be expected by chance. Conclusions and Relevance Together, these results suggest that several candidate genes and pathways are associated with the findings observed in PD GWAS studies., This genetic association study investigates what genes and genomic processes underlie the risk of sporadic Parkinson disease.

Published
2021

41. Predictors of clinically significant quality of life impairment in Parkinson's disease

Author

Santos García, Diego, de Deus Fonticoba, Teresa, Cores Bartolomé, Carlos, Muñoz, G., Paz González, J. M., Martínez Miró, C., Suárez, E., Jesús, S., Aguilar Barberà, Miquel, Pastor, P., Planellas, L., Cosgaya, Marina, García Caldentey, J., Caballol, Nuria, Legarda, I., Hernández-Vara, Jorge, Cabo-Lopez, Iria, López Manzanares, L., González Aramburu, I., Ávila, Asunción, Catalán, M. J., Nogueira, V., Puente, V., Ruíz de Arcos, M., Borrué, Carmen, Solano Vila, B., Álvarez Sauco, M., Vela, Lydia, Escalante, Sonia, Cubo, Esther, Carrillo Padilla, Francisco, Martínez-Castrillo, Juan Carlos, Sánchez Alonso, P., Alonso Losada, M. G., López Ariztegui, N, Gastón, I., Clavero, P., Kulisevsky, Jaime, Blázquez Estrada, Marta, Seijo, M., Rúiz Martínez, J., Valero, C., Kurtis, M., Fàbregues-Boixar i Nebot, Oriol de, González-Ardura, J, Ordás, C., López Díaz, L. M., McAfee, D., Martinez-Martin, P., Mir, P., Adarmes, D. A., Almeria, Marta, Alonso-Cánovas, Araceli, Alonso Frech, Fernando, Alonso Redondo, Rubén, Álvarez, I., Aneiros Díaz, Á., Arnáiz, S., Arribas, S., Ascunce Vidondo, A., Bernardo Lambrich, N., Bejr-Kasem Marco, Helena, Botí, M. Ángeles, Buongiorno, M. T., Cabello González, C., Cámara, Ana, Canfield Medina, H., Carrillo, F., Casas, E., Cortina Fernández, A., Cots-Foraster, Anna, Crespo Cuevas, Ane Miren, Díez-Fairen, M., Dotor García-Soto, J., Erro, E., Estelrich Peyret, E., Fernández Guillán, N., Gámez, Pedro, Gallego, Miguel, García Campos, C., García Moreno, José Manuel, Gómez Garre, M. P., Gómez Mayordomo, V., González Aloy, J., González García, B., González Palmás, M. J., Toledo, G., Gabriel, R., Golpe Díaz, A., Grau Solá, M., Guardia, G., Horta, Andrea, Idoate Calderón, D., Infante, J., Labandeira, C., Labrador-Espinosa, Miguel A, Lacruz, F., Lage Castro, M., Lastres Gómez, S., López Seoane, B., Lucas del Pozo, S., Macías, Y., Mata, M., Martí Andres, G., Martí, M. J., Meitín, M. T., Menéndez González, M., Méndez del Barrio, C., Miranda Santiago, J., Casado, M., María, I., Moreno Diéguez, A., Novo Amado, A., Novo Ponte, S., Pagonabarraga Mora, Javier, Pareés, I., Pascual-Sedano, Berta María, Pérez Fuertes, A., Pérez Noguera, R., Planas-Ballvé, A., Prats, M. A., Prieto Jurczynska, C., Pueyo Morlans, M., Puig-Davi, Arnau, Redondo Rafales, N., Rodríguez Méndez, L., Rodríguez Pérez, A. B., Roldán, F., Sánchez-Carpintero, M., Sánchez Díez, G., Sánchez Rodríguez, A., Santacruz, P., Segundo Rodríguez, J. C., Sierra Peña, M., Tartari, J. P., Vargas, L., Villanueva, C., Vives-Pastor, B, Villar, M. D., Institut Català de la Salut, [Santos García D, Cores C, Muñoz G, Paz González JM, Martínez Miró C] 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 Cantabria, 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, and Fundación Mutua Madrileña

Subjects
Quality of life, Qualitat de vida--Avaluació, Parkinson's disease, Parkinson, Malaltia de - Prognosi, Nervous System Diseases::Nervous System Diseases::Nervous System Diseases::Neurodegenerative Diseases::Parkinson Disease [DISEASES], Article, humanities, Environment and Public Health::Public Health::Epidemiologic Measurements::Demography::Health Status::Quality of Life [HEALTH CARE], Cellular and Molecular Neuroscience, enfermedades del sistema nervioso::enfermedades del sistema nervioso::enfermedades del sistema nervioso::enfermedades neurodegenerativas::enfermedad de Parkinson [ENFERMEDADES], Neurology, Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Disease Progression::Clinical Deterioration [DISEASES], Neurology. Diseases of the nervous system, Neurology (clinical), Parkinson, Malaltia de, RC346-429, afecciones patológicas, signos y síntomas::procesos patológicos::atributos de la enfermedad::progresión de la enfermedad::deterioro clínico [ENFERMEDADES], Qualitat de vida - Avaluació, ambiente y salud pública::salud pública::medidas epidemiológicas::demografía::estado de salud::calidad de vida [ATENCIÓN DE SALUD]
Abstract

COPPADIS Study Group., 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, 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.

Published
2021

42. Investigation of Autosomal Genetic Sex Differences in Parkinson's Disease

Author

Blauwendraat, Cornelis, Iwaki, Hirotaka, Gibbs, Jesse R, Bras, Jose, Guerreiro, Rita, Lubbe, Steven, Troycoco, Timothy, Finkbeiner, Steven, Mencacci, Niccolo E, Lungu, Codrin, Singleton, Andrew B, Scholz, Sonja W, Reed, Xylena, Hernandez, Dena Michelle Godwin, Uitti, Ryan J, Ross, Owen A, Grenn, Francis P, Moore, Anni, Alcalay, Roy N, Wszolek, Zbigniew K, Gan-Or, Ziv, Rouleau, Guy A, Krohn, Lynne, Mufti, Kheireddin, Ruskey, Jennifer A, van Hilten, Jacobus J, Marinus, Johan, Adarmes-Gómez, Astrid D, Aguilar, Miquel, Alvarez, Ignacio, Alvarez, Victoria, Barrero, Francisco Javier, Yarza, Jesús Alberto Bergareche, Bernal-Bernal, Inmaculada, Blazquez, Marta, Pihlstrøm, Lasse, Bonilla-Toribio, Marta, Botía, Juan A, Boungiorno, María Teresa, Buiza-Rueda, Dolores, Cámara, Ana, Carrillo, Fátima, Carrión-Claro, Mario, Cerdan, Debora, Clarimón, Jordi, Compta, Yaroslau, Toft, Mathias, Diez-Fairen, Monica, Dols-Icardo, Oriol, Duarte, Jacinto, Duran, Raquel, Escamilla-Sevilla, Francisco, Ezquerra, Mario, Feliz, Cici, Fernández, Manel, Fernández-Santiago, Rubén, Garcia, Ciara, García-Ruiz, Pedro, Gómez-Garre, Pilar, Heredia, Maria Jose Gomez, Gonzalez-Aramburu, Isabel, Pagola, Ana Gorostidi, Hoenicka, Janet, Infante, Jon, Jesús, Silvia, Jimenez-Escrig, Adriano, Kulisevsky, Jaime, Labrador-Espinosa, Miguel A, Lopez-Sendon, Jose Luis, de Munain Arregui, Adolfo López, Macias, Daniel, Torres, Irene Martínez, Marín, Juan, Marti, Maria Jose, Martínez-Castrillo, Juan Carlos, Méndez-Del-Barrio, Carlota, González, Manuel Menéndez, Schulte, Claudia, Mata, Marina, Mínguez, Adolfo, Mir, Pablo, Rezola, Elisabet Mondragon, Muñoz, Esteban, Pagonabarraga, Javier, Pastor, Pau, Errazquin, Francisco Perez, Periñán-Tocino, Teresa, Ruiz-Martínez, Javier, Brockmann, Kathrin, Ruz, Clara, Rodriguez, Antonio Sanchez, Sierra, María, Suarez-Sanmartin, Esther, Tabernero, Cesar, Tartari, Juan Pablo, Tejera-Parrado, Cristina, Tolosa, Eduard, Valldeoriola, Francesc, Vargas-González, Laura, Sharma, Manu, Vela, Lydia, Vives, Francisco, Zimprich, Alexander, Pihlstrom, Lasse, Taba, Pille, Koks, Sulev, Hassin-Baer, Sharon, Majamaa, Kari, Siitonen, Ari, Makarious, Mary B, Tienari, Pentti, Okubadejo, Njideka U, Ojo, Oluwadamilola O, Kaiyrzhanov, Rauan, Shashkin, Chingiz, Zharkinbekova, Nazira, Akhmetzhanov, Vadim, Kaishybayeva, Gulnaz, Karimova, Altynay, Khaibullin, Talgat, Lynch, Timothy L, Eerola-Rautio, Johanna, Tienari, Pentti J, Grosset, Donald G, Lesage, Suzanne, Corvol, Jean-Christophe, Brice, Alexis, Wood, Nick, Hardy, John, Bandres-Ciga, Sara, Heutink, Peter, Gasser, Thomas, Morris, Huw R, Noyce, Alastair J, Nalls, Mike A, Consortium, and the International Parkinson's Disease Genomics, Leonard, Hampton L, Middlehurst, Ben, Kia, Demis A, Tan, Manuela, Houlden, Henry, Storm, Catherine S, Plun-Favreau, Helene, Holmans, Peter, Trabzuni, Daniah, Quinn, John, Bubb, Vivien, Mok, Kin Y, Kinghorn, Kerri J, Wood, Nicholas W, Lewis, Patrick, Schreglmann, Sebastian R, Lovering, Ruth, R'Bibo, Lea, Manzoni, Claudia, Lake, Julie, Rizig, Mie, Ryten, Mina, Guelfi, Sebastian, Escott-Price, Valentina, Chelban, Viorica, Foltynie, Thomas, Williams, Nigel, Morrison, Karen E, Clarke, Carl, Harvey, Kirsten, Jacobs, Benjamin M, Danjou, Fabrice, Martinez, Maria, Simón-Sánchez, Javier, Rizzu, Patrizia, Schneider, Susanne A, Cookson, Mark R, Craig, David W, Billingsley, Kimberley, Kim, Jonggeol J, Narendra, Derek P, Faghri, Faraz, Gibbs, J Raphael, Van Keuren-Jensen, Kendall, Shulman, Joshua M, Robak, Laurie, Universidad de Cantabria, HUS Neurocenter, Neurologian yksikkö, Department of Neurosciences, University of Helsinki, Clinicum, Research Programs Unit, and Eija Pirinen / Principal Investigator

Subjects
0301 basic medicine, Male, Genotype, EFFICIENT, Physiology, Genome-wide association study, Disease, Biology, Genetic correlation, 3124 Neurology and psychiatry, 03 medical and health sciences, Sex Factors, 0302 clinical medicine, genetics [Parkinson Disease], Genetic variation, Humans, Genetic Predisposition to Disease, ddc:610, Parkinson Disease/genetics, METAANALYSIS, Research Articles, Genetic association, Aged, RISK, Sex Characteristics, Autosome, 3112 Neurosciences, Parkinson Disease, Heritability, Middle Aged, Genetic architecture, 3. Good health, 030104 developmental biology, Neurology, Female, GENDER, Neurology (clinical), 030217 neurology & neurosurgery, Research Article, Genome-Wide Association Study
Abstract

Methods: In an effort to study sex-specific genetic factors associated with PD, we explored 2 large genetic datasets from the International Parkinson?s Disease Genomics Consortium and the UK Biobank consisting of 13,020male PD cases, 7,936 paternal proxy cases, 89,660 male controls, 7,947 female PD cases, 5,473 maternal proxy cases, and 90,662 female controls. We performed GWASmeta-analyses to identify distinct patterns of genetic risk contributing to disease inmale versus female PD cases. Results: In total, 19 genomewide significant regions were identified and no sex-specific effects were observed. A high genetic correlation between the male and female PD GWAS were identified (rg = 0.877) and heritability estimates were identical between male and female PD cases (~ 20%). Interpretation: We did not detect any significant genetic differences between male or female PD cases. Our study does not support the notion that common genetic variation on the autosomes could explain the difference in prevalence of PD between males and females cases at least when considering the current sample size under study. Further studies are warranted to investigate the genetic architecture of PD explained by X and Y chromosomes and further evaluate environmental effects that could potentially contribute to PD etiology in male versus female patients. FUNDING: This work was supported in part by the Intramural Research Programs of the National Institute of Neurological Disorders and Stroke (NINDS), the National Institute on Aging (NIA), and the National Institute of Environmental Health Sciences both part of the National Institutes of Health, Department of Health and Human Services; Project numbers 1ZIA-NS003154, Z01-AG000949-02, and Z01-ES101986. In addition, this work was supported by the Department of Defense (award W81XWH-09-2-0128), and The Michael J. Fox Foundation for Parkinson’s Research. This work was supported by National Institutes of Health grants R01NS037167, R01CA141668, and P50NS071674, American Parkinson Disease Association (APDA); Barnes Jewish Hospital Foundation; Greater St Louis Chapter of the APDA. The KORA (Cooperative Research in the Region of Augsburg) research platform was started and financed by the Forschungszentrum für Umwelt und Gesundheit, which is funded by the German Federal Ministry of Education, Science, Research, and Technology and by the State of Bavaria. This study was also funded by the German Federal Ministry of Education and Research (BMBF) under the funding code 031A430A, the EU Joint Programme - Neurodegenerative Diseases Research (JPND) project under the aegis of JPND -www.jpnd.eu – through Germany, BMBF, funding code 01ED1406 and iMed – the Helmholtz Initiative on Personalized Medicine. This study utilized the high-performance computational capabilities of the Biowulf Linux cluster at the National Institutes of Health, Bethesda, MD, USA (http://biowulf.nih.gov), and DNA panels, samples, and clinical data from the National Institute of Neurological Disorders and Stroke Human Genetics Resource Center DNA and Cell Line Repository. People who contributed samples are acknowledged in descriptions of every panel on the repository website. We thank P. Tienari (Molecular Neurology Programme, Biomedicum, University of Helsinki), T. Peuralinna (Department of Neurology, Helsinki University Central Hospital), L. Myllykangas (Folkhalsan Institute of Genetics and Department of Pathology, University of Helsinki), and R. Sulkava (Department of Public Health and General Practice Division of Geriatrics, University of Eastern Finland) for the Finnish controls (Vantaa85+ GWAS data). This study was also funded by the Sigrid Juselius Foundation (KM). We used genomewide association data generated by the Wellcome Trust Case–Control Consortium 2 (WTCCC2) from UK patients with Parkinson’s disease and UK control individuals from the 1958 Birth Cohort and National Blood Service. UK population control data was made available through WTCCC1. As with previous IPDGC efforts, this study makes use of data generated by the Wellcome Trust Case-Control Consortium. A full list of the investigators who contributed to the generation of the data is available from www.wtccc.org.uk. Funding for the project was provided by the Wellcome Trust under awards 076113, 085475, and 090355. This study was also supported by Parkinson’s UK (grants 8047 and J-0804) and the Medical Research Council (G0700943 and G1100643). Sequencing and genotyping done in McGill University was supported by grants from the Michael J. Fox Foundation, the Canadian Consortium on Neurodegeneration in Aging (CCNA), the Canada First Research Excellence Fund (CFREF), awarded to McGill University for the Healthy Brains for Healthy Lives (HBHL) program and Parkinson’s Society Canada. The access to part of the participants at McGill has been made possible thanks to the Quebec Parkinson’s Network (http://rpq-qpn.ca/en). We thank the Quebec Parkinson’s Network (http://rpq-qpn.org) and its members. Harvard NeuroDiscovery Biomarker Study (HBS) is a collaboration of HBS investigators and funded through philanthropy and NIH and Non-NIH funding sources. The HBS Investigators have not participated in reviewing the data analysis or content of the manuscript. PPMI – a public-private partnership – is funded by the Michael J. Fox Foundation for Parkinson’s Research and funding partners, the full names of all of the PPMI funding partners can be found at www.ppmi-info.org/ fundingpartners. The PPMI Investigators have not participated in reviewing the data analysis or content of the manuscript. For up-to-date information on the study, visit www.ppmi-info.org. Parkinson’s Disease Biomarker Program (PDBP) consortium is supported by the National Institute of Neurological Disorders and Stroke (NINDS) at the National Institutes of Health. A full list of PDBP investigators can be found at https://pdbp.ninds.nih.gov/ policy. The PDBP Investigators have not participated in reviewing the data analysis or content of the manuscript

Published
2021
Full Text
View/download PDF

43. Identification of sixteen novel candidate genes for late onset Parkinson's disease

Author

Gialluisi, Alessandro, Reccia, Mafalda Giovanna, Modugno, Nicola, Nutile, Teresa, Lombardi, Alessia, Di Giovannantonio, Luca Giovanni, Pietracupa, Sara, Ruggiero, Daniela, Scala, Simona, Gambardella, Stefano, Noyce, Alastair J., Kaiyrzhanov, Rauan, Middlehurst, Ben, Kia, Demis A., Tan, Manuela, Houlden, Henry, Morris, Huw R., Plun-Favreau, Helen, Holmans, Peter, Hardy, John, Trabzuni, Daniah, Quinn, John, Bubb, Vivien, Mok, Kin Y., Kinghorn, Kerri J., Billingsley, Kimberley, Wood, Nicholas W., Lewis, Patrick, Schreglmann, Sebastian, Lovering, Rruth, R'Bibo, Lea, Manzoni, Claudia, Rizig, Mie, Ryten, Mina, Guelfi, Sebastian, Escott-Price, Valentina, Chelban, Viorica, Foltynie, Thomas, Williams, Nigel, Morrison, Karen E., Clarke, Carl, Brice, Alexis, Danjou, Fabrice, Lesage, Suzanne, Corvol, Jean-Christophe, Martinez, Maria, Schulte, Claudia, Brockmann, Kathrin, Simón-Sánchez, Javier, Heutink, Peter, Rizzu, Patrizia, Sharma, Manu, Gasser, Thomas, Cookson, Mark R., Bandres-Ciga, Sara, Blauwendraat, Cornelis, Craig, David W., Narendra, Derek, Faghri, Faraz, Gibbs, J.Raphael, Hernandez, Dena G., Van Keuren-Jensen, Kendall, Shulman, Joshua M., Iwaki, Hirotaka, Leonard, Hampton L., Nalls, Mike A., Robak, Laurie, Bras, Jose, Guerreiro, Rita, Lubbe, Steven, Finkbeiner, Steven, Mencacci, Niccolo E., Lungu, Codrin, Singleton, Andrew B., Scholz, Sonja W., Reed, Xylena, Alcalay, Roy N., Gan-Or, Zin, Rouleau, Guy A., Krohn, Lynne, van Hilten, Jacobus J., Marinus, Johan, Adarmes-Gómez, A.D, Aguilar Barberà, Miquel, Alvarez, Ignacio, Alvarez, Victoria, Barrero, Francisco Javier, Bergareche Yarza, Jesús Alberto, Bernal-Bernal, Inmaculada, Blazquez, Marta, Bonilla-Toribio, Marta, Botía, Juan A., Boungiorno, María Teresa, Buiza-Rueda, Dolores, Carrillo, Fátima, Carrión-Claro, M, Cerdan, Debora, Clarimón, Jordi, Compta, Yaroslau, Diez-Fairen, Monica, Dols Icardo, Oriol, Duarte, Jacinto, Duran, Raquel, Escamilla Sevilla, Francisco, Ezquerra, Mario, Feliz, Cici, Fernández, Manel, Fernández-Santiago, Rubén, Garcia, Ciara, García-Ruiz, Pedro, Gómez-Garre, Pilar, Gomez Heredia, Maria Jose, Gonzalez-Aramburu, Isabel, Gorostidi Pagola, Ana, Hoenicka, Janet, Infante, Jon, Jesús, Silvia, Jimenez-Escrig, Adriano, Kulisevsky, Jaime, Labrador-Espinosa, Miguel A., Lopez-Sendon, Jose Luis, López de Munain Arregui, Adolfo, Macias, Daniel, Martínez Torres, Irene, Marín, Juan, Marti, Maria Jose, Martínez-Castrillo, Juan Carlos, Méndez-del-Barrio, Carlota, Menéndez González, Manuel, Mata, Marina, Mínguez, Adolfo, Mir, Pablo, Mondragon Rezola, Elisabet, Muñoz, Esteban, Pagonabarraga Mora, Javier, Pastor, Pau, Perez Errazquin, Francisco, Periñán-Tocino, Teresa, Ruiz-Martínez, Javier, Ruz, Clara, Sanchez Rodriguez, Antonio, Sierra, María, Suarez-Sanmartin, Esther, Tabernero, Cesar, Tartari, Juan Pablo, Tejera-Parrado, Cristina, Tolosa, Eduard, Valldeoriola, Francesc, Vargas-González, Laura, Vela, Lydia, Vives, Francisco, Zimprich, Alexander, Pihlstrom, Lasse, Toft, Mathias, Koks, Sulev, Taba, Pille, Hassin-Baer, Sharon, Majamaa, Kari, Siitonen, Ari, Okubadejo, Njideka U., Ojo, Oluwadamilola O., Shashkin, Chingiz, Zharkynbekova, Nazira, Akhmetzhanov, Vadim, Aitkulova, Akbota, Zholdybayeva, Elena, Zharmukhanov, Zharkyn, Kaishybayeva, Gulnaz, Karimova, Altynay, Sadykova, Dinara, Iacoviello, Licia, Gianfrancesco, F., Acampora, D., D'Esposito, M., Simeone, A., Ciullo, M., Esposito, T., and Universidad de Cantabria

Subjects
0301 basic medicine, Male, Aging, Candidate gene, Parkinson's disease, Neurodegenerative, Bioinformatics, 0302 clinical medicine, Late onset Parkinson’s disease, Novel candidate genes for Parkinson’s disease, Rare variant burden analysis, Whole exome sequencing, Adult, Age of Onset, Aged, Female, Genetic Predisposition to Disease, Humans, Middle Aged, Parkinson Disease, Pedigree, Whole Exome Sequencing, 2.1 Biological and endogenous factors, Medicine, Novel candidate genes for Parkinson's disease, Aetiology, Exome, Exome sequencing, screening and diagnosis, education.field_of_study, Parkinson's Disease, LRRK2, International Parkinson’s Disease Genomics Consortium, Detection, Neurological, Late onset Parkinson's disease, 4.2 Evaluation of markers and technologies, Research Article, Clinical Sciences, Population, 03 medical and health sciences, Cellular and Molecular Neuroscience, Clinical Research, Exome Sequencing, Genetics, RC346-429, education, Molecular Biology, Neurology & Neurosurgery, business.industry, Genetic heterogeneity, Prevention, RC952-954.6, Neurosciences, PARK7, medicine.disease, Brain Disorders, 030104 developmental biology, Geriatrics, Neurology. Diseases of the nervous system, Neurology (clinical), business, 030217 neurology & neurosurgery
Abstract

Background Parkinson’s disease (PD) is a neurodegenerative movement disorder affecting 1–5% of the general population for which neither effective cure nor early diagnostic tools are available that could tackle the pathology in the early phase. Here we report a multi-stage procedure to identify candidate genes likely involved in the etiopathogenesis of PD. Methods The study includes a discovery stage based on the analysis of whole exome data from 26 dominant late onset PD families, a validation analysis performed on 1542 independent PD patients and 706 controls from different cohorts and the assessment of polygenic variants load in the Italian cohort (394 unrelated patients and 203 controls). Results Family-based approach identified 28 disrupting variants in 26 candidate genes for PD including PARK2, PINK1, DJ-1(PARK7), LRRK2, HTRA2, FBXO7, EIF4G1, DNAJC6, DNAJC13, SNCAIP, AIMP2, CHMP1A, GIPC1, HMOX2, HSPA8, IMMT, KIF21B, KIF24, MAN2C1, RHOT2, SLC25A39, SPTBN1, TMEM175, TOMM22, TVP23A and ZSCAN21. Sixteen of them have not been associated to PD before, were expressed in mesencephalon and were involved in pathways potentially deregulated in PD. Mutation analysis in independent cohorts disclosed a significant excess of highly deleterious variants in cases (p = 0.0001), supporting their role in PD. Moreover, we demonstrated that the co-inheritance of multiple rare variants (≥ 2) in the 26 genes may predict PD occurrence in about 20% of patients, both familial and sporadic cases, with high specificity (> 93%; p = 4.4 × 10− 5). Moreover, our data highlight the fact that the genetic landmarks of late onset PD does not systematically differ between sporadic and familial forms, especially in the case of small nuclear families and underline the importance of rare variants in the genetics of sporadic PD. Furthermore, patients carrying multiple rare variants showed higher risk of manifesting dyskinesia induced by levodopa treatment. Conclusions Besides confirming the extreme genetic heterogeneity of PD, these data provide novel insights into the genetic of the disease and may be relevant for its prediction, diagnosis and treatment.

Published
2021
Full Text
View/download PDF

44. Additional file 1 of Identifying comorbidities and lifestyle factors contributing to the cognitive profile of early Parkinson���s disease

Author

Mart��nez-Horta, Saul, Bejr-Kasem, Helena, Horta-Barba, Andrea, Pascual-Sedano, Berta, Santos-Garc��a, Diego, de Deus-Fonticoba, Teresa, Jes��s, Silvia, Aguilar, Miquel, Planellas, Lluis, Garc��a-Caldentey, Juan, Caballol, Nuria, Vives-Pastor, B��rbara, Hern��ndez-Vara, Jorge, Cabo-Lopez, Iria, L��pez-Manzanares, Lydia, Gonz��lez-Aramburu, Isabel, ��vila-Rivera, Maria Asunci��n, Catal��n, Maria Jose, L��pez-D��az, Luis Manuel, Puente, Victor, Garc��a-Moreno, Jose Manuel, Borru��, Carmen, Solano-Vila, Berta, ��lvarez-Sauco, Maria, Vela, Lydia, Escalante, Sonia, Cubo, Esther, Carrillo-Padilla, Francisco, Mart��nez-Castrillo, Juan Carlos, S��nchez-Alonso, Pilar, Alonso-Losada, Maria Gema, L��pez-Ariztegui, Nuria, Gast��n, Itziar, Bl��zquez-Estrada, Marta, Seijo-Mart��nez, Manual, R��iz-Mart��nez, Javier, Valero-Merino, Caridad, Kurtis, Monica, de F��bregues-Boixar, Oriol, Gonz��lez-Ardura, Jessica, Prieto-Jurczynska, Cristina, Martinez-Martin, Pablo, Mir, Pablo, and Kulisevsky, Jaime

Subjects
Data_FILES
Abstract

Additional file 1.

Published
2021
Full Text
View/download PDF

45. 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

Author

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

Abstract

[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.

Published
2021

46. Predictors of clinically significant quality of life impairment in Parkinson’s disease

Author

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

Abstract

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

Published
2021

47. Sleep Problems Are Related to a Worse Quality of Life and a Greater Non-Motor Symptoms Burden in Parkinson’s Disease

Author

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.

Abstract

[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.

Published
2021

48. Identifying comorbidities and lifestyle factors contributing to the cognitive profile of early Parkinson’s disease

Author

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.

Published
2021

49. Staging Parkinson’s Disease Combining Motor and Nonmotor Symptoms Correlates with Disability and Quality of Life

Author

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.

Published
2021

50. Aberrant Salient and Corticolimbic Connectivity in Hypersexual Parkinson's Disease

Author

Instituto de Salud Carlos III, Fundación HM Hospitales, Obeso, Ignacio [0000-0001-8783-7281], Mata-Marín, David, Pineda-Pardo, José A, Molina, José Antonio, Vela, Lydia, Alonso-Frech, Fernando, Obeso, Ignacio, Instituto de Salud Carlos III, Fundación HM Hospitales, Obeso, Ignacio [0000-0001-8783-7281], Mata-Marín, David, Pineda-Pardo, José A, Molina, José Antonio, Vela, Lydia, Alonso-Frech, Fernando, and Obeso, Ignacio

Abstract

Introduction: Impulse control disorders (ICDs) represent a side effect of dopaminergic medication in Parkinson's disease (PD). Patients experience an excessive desire toward natural rewards paired with uncontrolled actions. Yet, the precise neural and behavioral mechanisms associated with ICDs and, importantly, each specific subdomain remain unclear. We aim to decipher resting-state and corticolimbic functional connectivity in PD patients with and without hypersexual ICD. Materials and Methods: Seventeen PD patients with hypersexuality (PD+HS) and 15 PD patients without hypersexuality (PD-HS) underwent two sessions (with and without medication) of resting-state functional magnetic resonance imaging and were compared with 17 healthy controls. Dual-regression independent component analyses extracted salience, sensorimotor, default-mode, and central executive networks. Seed-based functional connectivity with three striatal subdivisions (motor, associative, and limbic) was obtained and significant changes were correlated with key impulsivity and inhibitory measures. Results: Enhanced salience network (SN) activity represented by a significant rise in the right inferior frontal gyrus was found in PD+HS compared with PD-HS. Connectivity analyses revealed a functional disconnection between associative and limbic striatum with precuneus and superior parietal lobe in PD+HS, some connections explained by abnormal sexual behavior and inhibition in PD+HS. Conclusions: Hypersexual ICD is associated with enhanced SN signaling and corticolimbic disconnections, including striatal associative and limbic loops that contribute to altered control of sexually driven behavior and overall severity in PD and ICD. Impact statement We enlarge the neurobiological basis to one specific Parkinson's disease (PD) and impulse control disorder (ICD) (PD+ICD) subtype-that is, hypersexuality-and reveal its associated resting-state functional connectivity linked to altered behavior. We report enhanced

Published
2021

Catalog

Books, media, physical & digital resources
See catalog results