Diagnostic et prise en charge d'un syndrome tremblement-ataxie lié à une prémutation de l'X fragile : le syndrome FXTAS

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder caused by a premutation CGG repeat expansion (55-199 repeats) of the fragile X gene FMR1. The classic phenotypic FXTAS manifestations are progressive tremor associated with gait ataxia in patients over 50 years of age. The aim of this review is to provide an update on the pathophysiology, phenotype and treatments of FXTAS, which is probably under diagnosed due to polymorphic phenotype and sometimes lack of family history.