Frequency of FMR1 premutation in individuals with ataxia and/or tremorand/or parkinsonism
“Frequency of FMR1 premutation in individuals with ataxia and/or tremorand/or parkinsonism”, vol. 7, pp. 74-84, 2008.
, 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 these symptoms, isolated or combined, were tested. Also, 74 normal men, randomly chosen in the population, formed the control group.