Téma:  Case Studies

Tremor and ataxia in patient with fragile x associated tremor/ataxia syndrome (fxtas)

Petra Bártová, Eva Šilhánová, Pavlína Plevová, David Školoudík, Michal Bar

Fragile X chromosome syndrome has been known as the most common inherited cause of mental impairment. Over the last years, another syndrome associated with fragile X chromosome was defined – Fragile X associated tremor/ataxia syndrome (FXTAS). Both of these syndromes are caused by mutation, resp. pre-mutation of FMR-1 gene located on chromosome X. Subjects with FXTAS syndrome have expanded repetitions of CGG sequention between 55 to 200 times. Males and females are affected between 50 and 70 years and fenotype variants are various. Authors reported the case of slow progression of tremor and gait disturbace in the patient with positive FRAXA syndrome history in descents. Genetic probe was tested in reported the patient and FXTAS syndrome was found. This is the first reported case of FXTAS syndrome in the Czech and Slovak literature.

Ročník 2007  Témy časopisu Neurology 2 / 2007

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