Article
Fragile X-premutation tremor/ataxia syndrome (FXTAS) in a young woman: clinical, genetics, MRI and 1H-MR spectroscopy correlates.
Collegium antropologicum - 1 Jan 2011
Sarac Helena, Henigsberg Neven, Markeljević Jasenka, Pavlisa Goran, Hof Patric R, Simić Goran
Abstract excerpt
It is generally thought that fragile X-associated tremor/ataxia syndrome (FXTAS) represents a late-onset neurodegenerative disorder occuring in male carriers of a premutation expansion (55-200 CGG repeats) in the fragile X mental retardation 1 (FMR 1) gene. However, several female patients with FXTAS have also been reported recently. Here, we describe a 23-year old woman with positive family history of mental...
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