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.
martes, 26 de julio de 2016
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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