Article
Frequency of FMR1 premutation in individuals with ataxia and/or tremor and/or parkinsonism.
Genetics and molecular research : GMR - 29 Jan 2008
Reis A H O, Ferreira A C S, Gomes K B, Aguiar M J B, Fonseca C G, Cardoso F E, Pardini V C, Carvalho M R S
Abstract excerpt
A late onset neurological syndrome in carriers of premutation in FMR1 gene was recently described. The condition was named fragile-X-associated tremor/ataxia syndrome (FXTAS) and includes intentional tremor, cerebellar ataxia, parkinsonism, and cognitive deficit. We ascertained the contribution of FMR1 premutation to the phenotypes ataxia, tremor and/or parkinsonism. Sixty-six men over 45 years old presenting...
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