A case of fragile-X-associated tremor/ataxia syndrome in China / 中华神经科杂志

ABSTRACT

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder occuring in male carriers of a premutation expansion (55-200 CGG repeats) in the fragile X mental retardation 1 (FMR1) gene. However, no FXTAS cases have been reported in China. We report a 67-year old male who presented clinically with orthostatic tremor, intention tremor, resting tremor and ataxic gait. Magnetic resonance imaging showed lesions in the bilateral middle cerebellar peduncles. Gene test showed premutation (101 CGG repeats) of the FMR1 gene and confirmed the diagnosis of FXTAS.