jueves, 20 de abril de 2023
domingo, 11 de diciembre de 2022
PRENPAR en el informe de la OMS de 2022 sobre enfermedad de Parkinson
Luego de mucho tiempo vuelvo a publicar algo por acá. No he estado prácticamente trabajando en nada vinculado a enfermedad de Parkinson en los últimos dos o tres años.
Pero sí vale la pena hacerlo para comunicar que el último informe de la OMS sobre enfermedad de Parkinson menciona al programa PRENPAR (Programa de Educación y Rehabilitación en la Enfermedad de Parkinson para pacientes, familiares y cuidadores), del cual participo.
Además lo hace citando otros interesantes trabajos nacionales a los que vale la pena darles una mirada.
Dejo todos los links e informacion:
Parkinson disease: a public health approach: technical brief, 14 June 2022
https://www.who.int/publications/i/item/9789240050983
Martinez Lupi FL. El cuidado en la Enfermedad de Parkinson: revisión nacional e internacional [Care in Parkinson’s disease: national and international review]. Montevideo: Facultad de Psicología, Universidad de la República; 2018. https://www.colibri.udelar.edu.uy/jspui/bitstream/20.500.12008/21032/1/Martinez.pdf
El cuidado en la enfermedad de Parkinson: una revisión desde la perspectiva de género y relacional
Fernando Berriel y Florencia Martínez Lupi
Neurama. Revista Electrónica de Psicogerontología, 2020
This paper explores the concepts that surround the practices of care, focusing on how the notions of care in Parkinson's disease have been constructed and what type of social relationship supposes for women to take care of a relative with a diagnosis of Parkinson's.
A literature review was carried out with emphasis on the case of Uruguay, where the prevalence of Parkinson's disease is 1.36 / 1000, and the average age of people with this condition is 72 years old. This country is one of those with the oldest population in Latin America.
In Uruguay, and also in the global context, there is a feminization of the elderly population and a high participation of older women in care tasks. In this context, there is a need to make visible the social crossings that make the specific reality of women caregivers informal.Finally, the conceptualizations found in the different theoretical perspectives are problematized, concluding with theincidence of the actors directly involved in care experiences.
https://udelar.academia.edu/FlorenciaMart%C3%ADnezLupi
domingo, 9 de junio de 2019
Using global team science to identify genetic Parkinson's disease worldwide.
Fue publicado el artículo en el que participa Uruguay:
Ann Neurol. 2019 Jun 2. doi: 10.1002/ana.25514. [Epub ahead of print]
Using global team science to identify genetic Parkinson's disease worldwide.
Vollstedt EJ1, Kasten M1,2, Klein C1; MJFF Global Genetic Parkinson's Disease Study Group.
Collaborators (209)
Aasly J, Adler C, Ahmad-Annuar A, Albanese A, Alcalay R, Al-Mubarak B, Alvarez V, Andree-Muñoz B, Annesi G, Appel-Cresswell S, Arkadir D, Armasu S, Barber TR, Bardien S, Barkhuizen M, Barrett MJ, BaŞak AN, Beach T, Benitez BA, Berg D, Bhatia K, Binkofski F, Blauwendraat C, Bonifati V, Borges V, Bozi M, Brice A, Brighina L, Brockmann K, Brüggemann N, Camacho M, Cardoso F, Belin AC, Carr J, Chan P, Chang-Castello J, Chase B, Chen-Plotkin A, Chung SJ, Cilia R, Clarimon J, Clark L, Cornejo-Olivas M, Corvol JC, Cosentino C, Cras P, Crosiers D, Damásio J, Das P, de Carvalho Aguiar P, De Michele G, De Rosa A, Dieguez E, Dorszewska J, Erer S, Ertan S, Farrer M, Fedotova E, Ferese R, Ferrarese C, Ferraz H, Fiala O, Foroud T, Friedman A, Frigerio R, Funayama M, Gambardella S, Garraux G, Gatto EM, Genç G, Goldwurm S, Gomez-Esteban JC, Gómez-Garre P, Gorostidi A, Grosset D, Hanagasi H, Hardy J, Hassan A, Hattori N, Hauser RA, Hedera P, Hentati F, Hertz JM, Holton JL, Houlden H, Hutz MH, Ikeuchi T, Illarioshkin S, Inca-Martinez M, Infante J, Jankovic J, Jeon BS, Jesús S, Jimenez-Del-Rio M, Kasten M, Kataoka H, Kawakami H, Kim YJ, Klein C, Klivényi P, Koks S, König IR, KostiĆ V, Koziorowski D, Krüger R, Krygowska-Wajs A, Kulisevsky J, Lang A, LeDoux M, Lesage S, Lim SY, Lin CH, Lohmann K, Lopera F, Lopez G, Lu CS, Lynch T, Machaczka M, Madoev H, Magalhães M, Majamaa K, Maraganore D, Marder K, Markopoulou K, Martikainen MH, Mata I, Mazzetti P, Mellick G, Menéndez-González M, Micheli F, Mirelman A, Mir P, Morino H, Morris H, Munhoz RP, Naito A, Olszewska DA, Ozelius LJ, Padmanabhan S, Paisán-Ruiz C, Payami H, Peluso S, Petkovic S, Petrucci S, Pezzoli G, Pimentel M, Pirker W, Pramstaller PP, Pulkes T, Puschmann A, Quattrone A, Raggio V, Ransmayr G, Rieder C, Riess O, Rodriguez-Porcel F, Rogaeva E, Ross OA, Ruiz-Martinez J, Sammler E, Luciano MS, Satake W, Saunders-Pullman R, Sazci A, Scherzer C, Schrag A, Schumacher-Schuh A, Sharma M, Sidransky E, Singleton AB, Petersen MS, Smolders S, Spitz M, Stefanis L, Struhal W, Sue C, Swan M, Swanberg M, Taba P, Taipa R, Tan M, Tan AH, Tan EK, Tang B, Tayebi N, Thaler A, Thomas A, Toda T, Toft M, Torres L, Tumas V, Valente EM, Van Broeckhoven C, Vecsei L, Velez-Pardo C, Vidailhet M, Vollstedt EJ, Warner TT, Williams-Gray CH, Winkelmann J, Woitalla D, Wood NW, Wszolek ZK, Wu RM, Wu YR, Xie T, Yoshino H, Zhang B, Zimprich A.
Author information
1
Institute of Neurogenetics, University of Luebeck, Luebeck, Germany.
2
Department of Psychiatry, University of Luebeck, Luebeck, Germany.
https://onlinelibrary.wiley.com/doi/abs/10.1002/ana.25514
Ann Neurol. 2019 Jun 2. doi: 10.1002/ana.25514. [Epub ahead of print]
Using global team science to identify genetic Parkinson's disease worldwide.
Vollstedt EJ1, Kasten M1,2, Klein C1; MJFF Global Genetic Parkinson's Disease Study Group.
Collaborators (209)
Aasly J, Adler C, Ahmad-Annuar A, Albanese A, Alcalay R, Al-Mubarak B, Alvarez V, Andree-Muñoz B, Annesi G, Appel-Cresswell S, Arkadir D, Armasu S, Barber TR, Bardien S, Barkhuizen M, Barrett MJ, BaŞak AN, Beach T, Benitez BA, Berg D, Bhatia K, Binkofski F, Blauwendraat C, Bonifati V, Borges V, Bozi M, Brice A, Brighina L, Brockmann K, Brüggemann N, Camacho M, Cardoso F, Belin AC, Carr J, Chan P, Chang-Castello J, Chase B, Chen-Plotkin A, Chung SJ, Cilia R, Clarimon J, Clark L, Cornejo-Olivas M, Corvol JC, Cosentino C, Cras P, Crosiers D, Damásio J, Das P, de Carvalho Aguiar P, De Michele G, De Rosa A, Dieguez E, Dorszewska J, Erer S, Ertan S, Farrer M, Fedotova E, Ferese R, Ferrarese C, Ferraz H, Fiala O, Foroud T, Friedman A, Frigerio R, Funayama M, Gambardella S, Garraux G, Gatto EM, Genç G, Goldwurm S, Gomez-Esteban JC, Gómez-Garre P, Gorostidi A, Grosset D, Hanagasi H, Hardy J, Hassan A, Hattori N, Hauser RA, Hedera P, Hentati F, Hertz JM, Holton JL, Houlden H, Hutz MH, Ikeuchi T, Illarioshkin S, Inca-Martinez M, Infante J, Jankovic J, Jeon BS, Jesús S, Jimenez-Del-Rio M, Kasten M, Kataoka H, Kawakami H, Kim YJ, Klein C, Klivényi P, Koks S, König IR, KostiĆ V, Koziorowski D, Krüger R, Krygowska-Wajs A, Kulisevsky J, Lang A, LeDoux M, Lesage S, Lim SY, Lin CH, Lohmann K, Lopera F, Lopez G, Lu CS, Lynch T, Machaczka M, Madoev H, Magalhães M, Majamaa K, Maraganore D, Marder K, Markopoulou K, Martikainen MH, Mata I, Mazzetti P, Mellick G, Menéndez-González M, Micheli F, Mirelman A, Mir P, Morino H, Morris H, Munhoz RP, Naito A, Olszewska DA, Ozelius LJ, Padmanabhan S, Paisán-Ruiz C, Payami H, Peluso S, Petkovic S, Petrucci S, Pezzoli G, Pimentel M, Pirker W, Pramstaller PP, Pulkes T, Puschmann A, Quattrone A, Raggio V, Ransmayr G, Rieder C, Riess O, Rodriguez-Porcel F, Rogaeva E, Ross OA, Ruiz-Martinez J, Sammler E, Luciano MS, Satake W, Saunders-Pullman R, Sazci A, Scherzer C, Schrag A, Schumacher-Schuh A, Sharma M, Sidransky E, Singleton AB, Petersen MS, Smolders S, Spitz M, Stefanis L, Struhal W, Sue C, Swan M, Swanberg M, Taba P, Taipa R, Tan M, Tan AH, Tan EK, Tang B, Tayebi N, Thaler A, Thomas A, Toda T, Toft M, Torres L, Tumas V, Valente EM, Van Broeckhoven C, Vecsei L, Velez-Pardo C, Vidailhet M, Vollstedt EJ, Warner TT, Williams-Gray CH, Winkelmann J, Woitalla D, Wood NW, Wszolek ZK, Wu RM, Wu YR, Xie T, Yoshino H, Zhang B, Zimprich A.
Author information
1
Institute of Neurogenetics, University of Luebeck, Luebeck, Germany.
2
Department of Psychiatry, University of Luebeck, Luebeck, Germany.
https://onlinelibrary.wiley.com/doi/abs/10.1002/ana.25514
martes, 28 de agosto de 2018
Ignacio Fernández Mata. Investigador especializado en Parkinson en la Cleveland Clinic
«Los tratamientos personalizados mejorarán la calidad de vida de los enfermos de párkinson»
«Estamos mucho más cerca de poder curar esta enfermedad que cuando yo empecé a investigar hace quince años»
JOSÉ L. GONZÁLEZ GIJÓN.
Lunes, 27 agosto 2018, 02:22
https://www.elcomercio.es/sociedad/salud/tratamientos-personalizados-mejoraran-20180827001700-ntvo.html
«Estamos mucho más cerca de poder curar esta enfermedad que cuando yo empecé a investigar hace quince años»
JOSÉ L. GONZÁLEZ GIJÓN.
Lunes, 27 agosto 2018, 02:22
https://www.elcomercio.es/sociedad/salud/tratamientos-personalizados-mejoraran-20180827001700-ntvo.html
miércoles, 8 de agosto de 2018
Parkinson: la importancia de los genes
Nota en CNN en Español al Dr. Ignacio Fernandez Mata, director del Consorcio Latinoamericano para el Estudio de la Genética del Parkinson.
https://cnnespanol.cnn.com/video/parkinson-importancia-genes-latinos-geneticamente-diferente-vive-la-salud-cnnee/
https://cnnespanol.cnn.com/video/parkinson-importancia-genes-latinos-geneticamente-diferente-vive-la-salud-cnnee/
viernes, 2 de junio de 2017
Variable frequency of LRRK2 variants in the Latin American research consortium on the genetics of Parkinson’s disease (LARGE-PD), a case of ancestry
Salió la publicación con los resultados de LARGE-PD para mutaciones en LRRK2 en Latinoamérica del que somos participantes. A continuación tienen el resumen y siguiendo el link se accede al artículo completo.
Variable frequency of LRRK2 variants in the Latin American research consortium on the genetics of Parkinson’s disease (LARGE-PD), a case of ancestry
Mario Cornejo-Olivas1,2, Luis Torres3,4, Mario R. Velit-Salazar1,5, Miguel Inca-Martinez1, Pilar Mazzetti1,4, Carlos Cosentino3,4,Federico Micheli6, Claudia Perandones6, Elena Dieguez7, Victor Raggio8, Vitor Tumas9, Vanderci Borges10, Henrique B. Ferraz10,Carlos R. M. Rieder11, Artur Shumacher-Schuh11, Carlos Velez-Pardo12, Marlene Jimenez-Del-Rio12, Francisco Lopera12,Jorge Chang-Castello13, Brennie Andreé-Munoz14, Sarah Waldherr15,16, Dora Yearout15,16, Cyrus P. Zabetian15,16and Ignacio F. Mata15,16
1Neurogenetics Research Center, Instituto Nacional de Ciencias Neurologicas, Lima, Peru;2Northern Pacific Global Health Research Training Consortium, Bethesda, MD, USA;3Movement Disorders Unit, Instituto Nacional de Ciencias Neurologicas, Lima, Peru;4Universidad Nacional Mayor de San Marcos, Lima, Peru;5Universidad Peruana CayetanoHeredia, Lima, Peru;6Hospital de Clínicas José de San Martín, Universidad de Buenos Aires, Buenos Aires, Argentina;7Neurology Institute, Universidad de la Republica,Montevideo, Uruguay;8Department of Genetics, Facultad de Medicina, Universidad de la Republica, Montevideo, Uruguay;9Ribeirão Preto Medical School, Universidade de SãoPaulo, Ribeirão Preto, Brazil;10Movement Disorders Unit, Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, SP, Brazil;11Hospital deClínicas de Porto Alegre, Porto Alegre, Brazil;12Neruroscience Research Group, Medical Research Institute, Universidad de Antioquia, Medellin, Colombia;13Department ofGenetics, School of Medici ne, Universidad de Guayaquil, Hospital Luis Vernaza, Guayaquil, Ecuador;14Service of Neurology, Hospital Luis Vernaza, Guayaquil, Ecuador;15VeteransAffairs Puget Sound Health Care System, University of Washington, Seattle, WA, USA and16Department of Neurology, University of Washington, Seattle, WA, USACorrespondence: Ignacio F . Mata (nachofm@uw.edu)
Mutations in Leucine Repeat Rich Kinase 2 (LRRK2), primarily located in codons G2019 and R1441, represent the most common genetic cause of Parkinson’s disease in European-derived populations. However, little is known about the frequency of these mutations in Latin American populations. In addition, a prior study suggested that a LRRK2 polymorphism (p.Q1111H) specific to Latino and Amerindian populations might be a risk factor for Parkinson’s disease, but this finding requires replication. We screened1734 Parkinson’s disease patients and 1097 controls enrolled in the Latin American Research Consortium on the Genetics of Parkinson’s disease (LARGE-PD), which includes sites in Argentina, Brazil, Colombia, Ecuador, Peru, and Uruguay. Genotypes were determined by TaqMan assay (p.G2019S and p.Q1111H) or by sequencing of exon 31 (p.R1441C/G/H/S). Admixture proportion was determined using a panel of 29 ancestry informative markers. We identified a total of 29 Parkinson’s disease patients (1.7%) who carried p.G2019S and the frequency ranged from 0.2% in Peru to 4.2% in Uruguay. Only two Parkinson’s disease patients carried p.R1441G and one patient carried p.R1441C. There was no significant difference in the frequency of p.Q1111H in patients (3.8%) compared to controls (3.1%; OR 1.02, p = 0.873). The frequency of LRRK2-p.G2019S varied greatly between different Latin American countries and was directly correlated with the amount of European ancestry observed. p.R1441G is rare in Latin America despite the large genetic contribution made by settlers from Spain, where the mutation is relatively common.
npj Parkinson’s Disease (2017) 3:19 ; doi:10.1038/s41531-017-0020-6
Variable frequency of LRRK2 variants in the Latin American research consortium on the genetics of Parkinson’s disease (LARGE-PD), a case of ancestry
Mario Cornejo-Olivas1,2, Luis Torres3,4, Mario R. Velit-Salazar1,5, Miguel Inca-Martinez1, Pilar Mazzetti1,4, Carlos Cosentino3,4,Federico Micheli6, Claudia Perandones6, Elena Dieguez7, Victor Raggio8, Vitor Tumas9, Vanderci Borges10, Henrique B. Ferraz10,Carlos R. M. Rieder11, Artur Shumacher-Schuh11, Carlos Velez-Pardo12, Marlene Jimenez-Del-Rio12, Francisco Lopera12,Jorge Chang-Castello13, Brennie Andreé-Munoz14, Sarah Waldherr15,16, Dora Yearout15,16, Cyrus P. Zabetian15,16and Ignacio F. Mata15,16
1Neurogenetics Research Center, Instituto Nacional de Ciencias Neurologicas, Lima, Peru;2Northern Pacific Global Health Research Training Consortium, Bethesda, MD, USA;3Movement Disorders Unit, Instituto Nacional de Ciencias Neurologicas, Lima, Peru;4Universidad Nacional Mayor de San Marcos, Lima, Peru;5Universidad Peruana CayetanoHeredia, Lima, Peru;6Hospital de Clínicas José de San Martín, Universidad de Buenos Aires, Buenos Aires, Argentina;7Neurology Institute, Universidad de la Republica,Montevideo, Uruguay;8Department of Genetics, Facultad de Medicina, Universidad de la Republica, Montevideo, Uruguay;9Ribeirão Preto Medical School, Universidade de SãoPaulo, Ribeirão Preto, Brazil;10Movement Disorders Unit, Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, SP, Brazil;11Hospital deClínicas de Porto Alegre, Porto Alegre, Brazil;12Neruroscience Research Group, Medical Research Institute, Universidad de Antioquia, Medellin, Colombia;13Department ofGenetics, School of Medici ne, Universidad de Guayaquil, Hospital Luis Vernaza, Guayaquil, Ecuador;14Service of Neurology, Hospital Luis Vernaza, Guayaquil, Ecuador;15VeteransAffairs Puget Sound Health Care System, University of Washington, Seattle, WA, USA and16Department of Neurology, University of Washington, Seattle, WA, USACorrespondence: Ignacio F . Mata (nachofm@uw.edu)
Mutations in Leucine Repeat Rich Kinase 2 (LRRK2), primarily located in codons G2019 and R1441, represent the most common genetic cause of Parkinson’s disease in European-derived populations. However, little is known about the frequency of these mutations in Latin American populations. In addition, a prior study suggested that a LRRK2 polymorphism (p.Q1111H) specific to Latino and Amerindian populations might be a risk factor for Parkinson’s disease, but this finding requires replication. We screened1734 Parkinson’s disease patients and 1097 controls enrolled in the Latin American Research Consortium on the Genetics of Parkinson’s disease (LARGE-PD), which includes sites in Argentina, Brazil, Colombia, Ecuador, Peru, and Uruguay. Genotypes were determined by TaqMan assay (p.G2019S and p.Q1111H) or by sequencing of exon 31 (p.R1441C/G/H/S). Admixture proportion was determined using a panel of 29 ancestry informative markers. We identified a total of 29 Parkinson’s disease patients (1.7%) who carried p.G2019S and the frequency ranged from 0.2% in Peru to 4.2% in Uruguay. Only two Parkinson’s disease patients carried p.R1441G and one patient carried p.R1441C. There was no significant difference in the frequency of p.Q1111H in patients (3.8%) compared to controls (3.1%; OR 1.02, p = 0.873). The frequency of LRRK2-p.G2019S varied greatly between different Latin American countries and was directly correlated with the amount of European ancestry observed. p.R1441G is rare in Latin America despite the large genetic contribution made by settlers from Spain, where the mutation is relatively common.
npj Parkinson’s Disease (2017) 3:19 ; doi:10.1038/s41531-017-0020-6
miércoles, 9 de noviembre de 2016
Las pruebas genéticas en la enfermedad de Parkinson
Publicado el 1 nov. 2016
Temas Calientes Presentador Dr. Ignacio Mata (España) habla de su estudio de las pruebas genéticas para la enfermedad de Parkinson en el 4º Congreso Mundial de Parkinson en Portland, Oregón.
miércoles, 14 de septiembre de 2016
martes, 26 de julio de 2016
Artículo sobre el trabajo de Nacho Mata en LARGE-PD.
Crossing Borders: Beyond the Euro-Centric Medical Research in Parkinson Disease
http://depts.washington.edu/mbwc/news/article/crossing-the-border-beyond-the-euro-centric-medical-research-in-parkinsons-
Artículo sobre el trabajo de Nacho Mata en LARGE-PD.
http://depts.washington.edu/mbwc/news/article/crossing-the-border-beyond-the-euro-centric-medical-research-in-parkinsons-
Artículo sobre el trabajo de Nacho Mata en LARGE-PD.
domingo, 10 de julio de 2016
Simposio de Neurogenética en el Congreso Latinoamericano de Genética
Simposio de Neurogenética en el Congreso Latinoamericano de Genética
Coordinadora: Leda Roche, Departamento de Genética, Facultad de Medicina, UdelaR.
viernes, 8 de julio de 2016
Homenaje al Prof. Agdo. Dr. Ricardo Buzó
El Consejo de la Facultad de Medicina informa que el próximo miércoles 13 de julio del presente, a las 16:00 horas, se realizará el homenaje al Prof. Agdo. Dr. Ricardo Buzó en reconocimiento a su trayectoria, méritos y su valiosa contribución a la docencia en el Instituto de Neurología, invitamos a todo el demos de la Facultad a participar de esta instancia.
Atentamente.
Sección Consejo
Atentamente.
Sección Consejo
viernes, 19 de febrero de 2016
Genética de la EP desde Seattle
The Power to be Precise
Cyrus Zabetian e Ignacio Fernandez Mata.
Un muy buen artículo sobre los últimos trabajos de este grupo con quienes tenemos el gusto de colaborar.
Cyrus Zabetian e Ignacio Fernandez Mata.
Un muy buen artículo sobre los últimos trabajos de este grupo con quienes tenemos el gusto de colaborar.
El artículo original recientemente publicado: GBA Variants are associated with a distinct pattern of cognitive deficits in Parkinson's disease.
martes, 8 de diciembre de 2015
viernes, 27 de noviembre de 2015
lunes, 19 de octubre de 2015
Nilotinib
Parkinson's patients 'walk and talk again' after receiving cancer drug in trial
Professor who led the study says 'we've seen patients at end stages of the disease coming back to life'
Professor who led the study says 'we've seen patients at end stages of the disease coming back to life'
Ensayo clínico para Enfermedad de Huntington
Landmark Huntington's trial starts.
The first drug that can potentially correct the underlying defect that causes Huntington's disease has been taken by patients in a clinical trial.
BBC.
Via: Bionews.
The first drug that can potentially correct the underlying defect that causes Huntington's disease has been taken by patients in a clinical trial.
BBC.
Via: Bionews.
miércoles, 16 de septiembre de 2015
Parkinson’s disease: From human genetics to clinical trials
Parkinson’s disease: From human genetics to clinical trials
Marcel P. van der Brug1, Andrew Singleton2, Thomas Gasser3 and Patrick A. Lewis4,5,6,*
Science Translational Medicine 16 Sep 2015:
Vol. 7, Issue 305, pp. 205ps20
DOI: 10.1126/scitranslmed.aaa8280
Marcel P. van der Brug1, Andrew Singleton2, Thomas Gasser3 and Patrick A. Lewis4,5,6,*
Science Translational Medicine 16 Sep 2015:
Vol. 7, Issue 305, pp. 205ps20
DOI: 10.1126/scitranslmed.aaa8280
viernes, 6 de marzo de 2015
APOE, MAPT, and SNCA Genes and Cognitive Performance in Parkinson Disease
APOE, MAPT, and SNCA Genes and Cognitive Performance in Parkinson Disease
Ignacio F. Mata, PhD1,3; James B. Leverenz, MD1,2,3,4,5; Daniel Weintraub, MD6,7,8; John Q. Trojanowski, MD, PhD9,10; Howard I. Hurtig, MD6; Vivianna M. Van Deerlin, MD, PhD9; Beate Ritz, MD, PhD11,12,13; Rebecca Rausch, PhD13; Shannon L. Rhodes, PhD11; Stewart A. Factor, DO14; Cathy Wood-Siverio, MS14; Joseph F. Quinn, MD15,16; Kathryn A. Chung, MD15,16; Amie L. Peterson, MD15,16; Alberto J. Espay, MD17; Fredy J. Revilla, MD17,18; Johnna Devoto, PsyD17; Shu-Ching Hu, MD, PhD1,2,3; Brenna A. Cholerton, PhD1,4; Jia Y. Wan, MS19,20; Thomas J. Montine, MD, PhD21; Karen L. Edwards, PhD19,20; Cyrus P. Zabetian, MD, MS1,2,3
[+] Author Affiliations
JAMA Neurol. 2014;71(11):1405-1412. doi:10.1001/jamaneurol.2014.1455. Text Size: A A A
Article
Tables
Supplemental Content
References
Comments
ABSTRACT
ABSTRACT | INTRODUCTION | METHODS | RESULTS | DISCUSSION | CONCLUSIONS | ARTICLE INFORMATION | REFERENCES
Importance Cognitive impairment is a common and disabling problem in Parkinson disease (PD) that is not well understood and is difficult to treat. Identification of genetic variants that influence the rate of cognitive decline or pattern of early cognitive deficits in PD might provide a clearer understanding of the etiopathogenesis of this important nonmotor feature.
Objective To determine whether common variation in the APOE, MAPT, and SNCA genes is associated with cognitive performance in patients with PD.
Design, Setting, and Participants We studied 1079 PD patients from 6 academic centers in the United States who underwent assessments of memory (Hopkins Verbal Learning Test–Revised [HVLT-R]), attention and executive function (Letter-Number Sequencing Test and Trail Making Test), language processing (semantic and phonemic verbal fluency tests), visuospatial skills (Benton Judgment of Line Orientation test), and global cognitive function (Montreal Cognitive Assessment). Participants underwent genotyping for the APOE ε2/ε3/ε4 alleles, MAPT H1/H2 haplotypes, and SNCA rs356219. We used linear regression to test for association between genotype and baseline cognitive performance with adjustment for age, sex, years of education, disease duration, and site. We used a Bonferroni correction to adjust for the 9 comparisons that were performed for each gene.
Main Outcomes and Measures Nine variables derived from 7 psychometric tests.
Results The APOE ε4 allele was associated with lower performance on the HVLT-R Total Recall (P = 6.7 × 10−6; corrected P [Pc] = 6.0 × 10−5), Delayed Recall (P = .001; Pc = .009), and Recognition Discrimination Index (P = .004; Pc = .04); a semantic verbal fluency test (P = .002; Pc = .02); the Letter-Number Sequencing Test (P = 1 × 10−5; Pc = 9 × 10−5); and Trail Making Test B minus Trail Making Test A (P = .002; Pc = .02). In a subset of 645 patients without dementia, the APOE ε4 allele was associated with lower scores on the HVLT-R Total Recall (P = .005; Pc = .045) and the semantic verbal fluency (P = .005; Pc = .045) measures. Variants of MAPT and SNCA were not associated with scores on any tests.
Conclusions and Relevance Our data indicate that the APOE ε4 allele is an important predictor of cognitive function in PD across multiple domains. Among PD patients without dementia, the APOE ε4 allele was only associated with lower performance on word list learning and semantic verbal fluency, a pattern more typical of the cognitive deficits seen in early Alzheimer disease than PD.
Ignacio F. Mata, PhD1,3; James B. Leverenz, MD1,2,3,4,5; Daniel Weintraub, MD6,7,8; John Q. Trojanowski, MD, PhD9,10; Howard I. Hurtig, MD6; Vivianna M. Van Deerlin, MD, PhD9; Beate Ritz, MD, PhD11,12,13; Rebecca Rausch, PhD13; Shannon L. Rhodes, PhD11; Stewart A. Factor, DO14; Cathy Wood-Siverio, MS14; Joseph F. Quinn, MD15,16; Kathryn A. Chung, MD15,16; Amie L. Peterson, MD15,16; Alberto J. Espay, MD17; Fredy J. Revilla, MD17,18; Johnna Devoto, PsyD17; Shu-Ching Hu, MD, PhD1,2,3; Brenna A. Cholerton, PhD1,4; Jia Y. Wan, MS19,20; Thomas J. Montine, MD, PhD21; Karen L. Edwards, PhD19,20; Cyrus P. Zabetian, MD, MS1,2,3
[+] Author Affiliations
JAMA Neurol. 2014;71(11):1405-1412. doi:10.1001/jamaneurol.2014.1455. Text Size: A A A
Article
Tables
Supplemental Content
References
Comments
ABSTRACT
ABSTRACT | INTRODUCTION | METHODS | RESULTS | DISCUSSION | CONCLUSIONS | ARTICLE INFORMATION | REFERENCES
Importance Cognitive impairment is a common and disabling problem in Parkinson disease (PD) that is not well understood and is difficult to treat. Identification of genetic variants that influence the rate of cognitive decline or pattern of early cognitive deficits in PD might provide a clearer understanding of the etiopathogenesis of this important nonmotor feature.
Objective To determine whether common variation in the APOE, MAPT, and SNCA genes is associated with cognitive performance in patients with PD.
Design, Setting, and Participants We studied 1079 PD patients from 6 academic centers in the United States who underwent assessments of memory (Hopkins Verbal Learning Test–Revised [HVLT-R]), attention and executive function (Letter-Number Sequencing Test and Trail Making Test), language processing (semantic and phonemic verbal fluency tests), visuospatial skills (Benton Judgment of Line Orientation test), and global cognitive function (Montreal Cognitive Assessment). Participants underwent genotyping for the APOE ε2/ε3/ε4 alleles, MAPT H1/H2 haplotypes, and SNCA rs356219. We used linear regression to test for association between genotype and baseline cognitive performance with adjustment for age, sex, years of education, disease duration, and site. We used a Bonferroni correction to adjust for the 9 comparisons that were performed for each gene.
Main Outcomes and Measures Nine variables derived from 7 psychometric tests.
Results The APOE ε4 allele was associated with lower performance on the HVLT-R Total Recall (P = 6.7 × 10−6; corrected P [Pc] = 6.0 × 10−5), Delayed Recall (P = .001; Pc = .009), and Recognition Discrimination Index (P = .004; Pc = .04); a semantic verbal fluency test (P = .002; Pc = .02); the Letter-Number Sequencing Test (P = 1 × 10−5; Pc = 9 × 10−5); and Trail Making Test B minus Trail Making Test A (P = .002; Pc = .02). In a subset of 645 patients without dementia, the APOE ε4 allele was associated with lower scores on the HVLT-R Total Recall (P = .005; Pc = .045) and the semantic verbal fluency (P = .005; Pc = .045) measures. Variants of MAPT and SNCA were not associated with scores on any tests.
Conclusions and Relevance Our data indicate that the APOE ε4 allele is an important predictor of cognitive function in PD across multiple domains. Among PD patients without dementia, the APOE ε4 allele was only associated with lower performance on word list learning and semantic verbal fluency, a pattern more typical of the cognitive deficits seen in early Alzheimer disease than PD.
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