Artículos de revistas
Clinical and genetic analysis of 29 Brazilian patients with Huntington's disease-like phenotype
Registration in:
Arquivos De Neuro-psiquiatria. Assoc Arquivos Neuro- Psiquiatria, v. 69, n. 3, n. 419, n. 423, 2011.
0004-282X
WOS:000292115600002
Author
Rodrigues, GR
Walker, RH
Bader, B
Danek, A
Brice, A
Cazeneuve, C
Russaouen, O
Lopes-Cendess, I
Marques, W
Tumas, V
Institutions
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 choreaacanthocytosis (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. 69 3 419 423 Bayerische Forschungsstiftung German Federal Ministry of Research Manchner Universitatsgesellschaft Deutsch-Franzosische Hochschulstiftung Advocacy for Neuroacanthocytosis Patients
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