Ataxie cérébelleuse tardive due à la prémutation de l'X fragile

FXTAS should be suspected in patients with unexplained late-onset cerebellar ataxia. Typical presentation includes a male in his fifties with progressive ataxia and tremor. Brain MRI with symmetrical cerebellar abnormalities is very suggestive of this diagnosis. Genetic screening and advice for the patient and his family must be proposed in order to detect the fragile X syndrome.