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dc.contributor.author
Gatto, Emilia Mabel
dc.contributor.author
Parisi, Virginia
dc.contributor.author
Persi, Gabriel
dc.contributor.author
Converso, Daniela Paola
dc.contributor.author
Etcheverry, José Luis
dc.contributor.author
Varela, Viviana
dc.contributor.author
Alba, Liliana
dc.contributor.author
Fretchel, Gustavo
dc.date.available
2019-01-03T21:51:07Z
dc.date.issued
2012-02
dc.identifier.citation
Gatto, Emilia Mabel; Parisi, Virginia; Persi, Gabriel; Converso, Daniela Paola; Etcheverry, José Luis; et al.; Clinical and genetic characteristics in patients with Huntington's Disease from Argentina; Elsevier; Parkinsonism & Related Disorders; 18; 2; 2-2012; 166-169
dc.identifier.issn
1353-8020
dc.identifier.uri
http://hdl.handle.net/11336/67359
dc.description.abstract
Huntington's Disease (HD) is a neurodegenerative disease, caused by the expansion of an unstable (CAG) n in the HTT gene. There is scarce data about the disease in Argentina. Objective: To describe the demographic, clinical and molecular data in patients with HD from Argentina. Patients and methods: 59 HD patients were recruited at our department.Comprehensive interviews, neurological examination and genetic analysis were performed in probands. Statistical analysis was conducted using G-Stat 2.0 and non-parametric tests (Wilcoxon). Results: 32 women and 27 men were diagnosed with a mean age of 45.7±16.2years and a mean age at onset of 35.8±14.8years. We found no gender prevalence and an inverse correlation between size of mutant CAG repeat sequence and age at onset, r=-0.58, r 2=33.6, Pearson's correlation coefficient p=0.0008.Juvenile HD in this series of patients was higher than previously reported (16.6% vs. <10%). The mean CAG repeat in the expanded allele was 45.1. The number of CAG repeats in Argentinean controls was 17.8, which is similar to the literature of the European population. Conclusions: This is the first series of Argentinean HD patients with demographic, clinical and molecular data. Our findings appear similar to the ones described in Western European populations.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Elsevier
dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-nd/2.5/ar/
dc.subject
Chorea
dc.subject
Demographic
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Familial Chorea
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Huntington'S Disease
dc.subject.classification
Otras Ciencias Biológicas
dc.subject.classification
Ciencias Biológicas
dc.subject.classification
CIENCIAS NATURALES Y EXACTAS
dc.title
Clinical and genetic characteristics in patients with Huntington's Disease from Argentina
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2019-01-02T19:50:00Z
dc.journal.volume
18
dc.journal.number
2
dc.journal.pagination
166-169
dc.journal.pais
Países Bajos
dc.journal.ciudad
Amsterdam
dc.description.fil
Fil: Gatto, Emilia Mabel. Instituto de Neurociencias Buenos Aires S. A.; Argentina. Sanatorio de La Trinidad Mitre; Argentina
dc.description.fil
Fil: Parisi, Virginia. Sanatorio de La Trinidad Mitre; Argentina
dc.description.fil
Fil: Persi, Gabriel. Sanatorio de La Trinidad Mitre; Argentina
dc.description.fil
Fil: Converso, Daniela Paola. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Departamento de Química Biológica; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
dc.description.fil
Fil: Etcheverry, José Luis. Instituto de Neurociencias Buenos Aires S. A.; Argentina
dc.description.fil
Fil: Varela, Viviana. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
dc.description.fil
Fil: Alba, Liliana. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina
dc.description.fil
Fil: Fretchel, Gustavo. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina
dc.journal.title
Parkinsonism & Related Disorders
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://www.sciencedirect.com/science/article/pii/S1353802011003087
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1016/j.parkreldis.2011.09.011
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