Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/107862
Type: Artigo de periódico
Title: Clinical And Genetic Analysis Of 29 Brazilian Patients With Huntington's Disease-like Phenotype [análise Clínica E Genética Em 29 Pacientes Brasileiros Com Fenótipo Doença De Huntington-símile]
Author: Rodrigues G.R.
Walker R.H.
Bader B.
Danek A.
Brice A.
Cazeneuve C.
Russaouen O.
Lopes-Cendes I.
Marques Jr. W.
Tumas V.
Abstract: Huntington's disease (HD) is a neurodegenerative disorder characterized by chorea, behavioral disturbances and dementia, caused by a pathological expansion of the CAG trinucleotide in the HTT gene. Several patients have been recognized with the typical HD phenotype without the expected mutation. The objective of this study was to assess the occurrence of diseases such as Huntington's disease-like 2 (HDL2), spinocerebellar ataxia (SCA) 1, SCA2, SCA3, SCA7, dentatorubral-pallidoluysian atrophy (DRPLA) and chorea-acanthocytosis (ChAc) among 29 Brazilian patients with a HD-like phenotype. In the group analyzed, we found 3 patients with HDL2 and 2 patients with ChAc. The diagnosis was not reached in 79.3% of the patients. HDL2 was the main cause of the HD-like phenotype in the group analyzed, and is attributable to the African ancestry of this population. However, the etiology of the disease remains undetermined in the majority of the HD negative patients with HD-like phenotype.
Editor: 
Rights: aberto
Identifier DOI: 10.1590/S0004-282X2011000400002
Address: http://www.scopus.com/inward/record.url?eid=2-s2.0-79960579335&partnerID=40&md5=2560e53635c7f0deb67b2f1712c5be99
Date Issue: 2011
Appears in Collections:Unicamp - Artigos e Outros Documentos

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