A case of fragile-X-associated tremor/ataxia syndrome in China

VernacularTitle:脆性X相关震颤/共济失调综合征一例
Author: Hongyan LI ¹ ; Bing ZHAO ; Jianyuan ZHANG ; Cuiping ZHAO
Author Information

1. 山东大学齐鲁医院(青岛)神经内科
Keywords: X chromosome; Ataxia; Tremor
From: Chinese Journal of Neurology 2018;51(12):995-997
CountryChina
Language:Chinese
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.