Article
Molecular diagnosis of Huntington disease in Brazilian patients.
Arquivos de neuro-psiquiatria - 1 Mar 2000
Lima E Silva T C, Serra H G, Bertuzzo C S, Lopes-Cendes I
Abstract excerpt
Huntington disease (HD) is a progressive neurodegenerative disorder with autosomal dominant inheritance, characterized by choreiform movements and cognitive impairment. Onset of symptoms is around 40 years of age and progression to death occurs in approximately 10 to 15 years from the time of disease onset. HD is associated with an unstable CAG repeat expansion at the 5' and of the IT15 gene. We have genotyped...
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