Article
Clinical and genetic analysis of 29 Brazilian patients with Huntington's disease-like phenotype.
Arquivos de neuro-psiquiatria - 1 Jun 2011
Rodrigues Guilherme Riccioppo, Walker Ruth H, Bader Benedikt, Danek Adrian, Brice Alexis, Cazeneuve Cécile, Russaouen Odile, Lopes-Cendes Iscia, Marques Wilson, Tumas Vitor
Abstract excerpt
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),...
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