This case-report of FXTAS (fragile X-associated tremor ataxia syndrome) is of a 58 year-old man who presented with postural tremor, mild ataxia and a dysexecutive cognitive deficit. The disorder was slowly progressive. Brain MRI showed the characteristic abnormalities of mild cerebellar atrophy with symmetrical high signal changes in the middle cerebellar peduncles and subcortical white matter of the cerebral hemispheres. The diagnosis was confirmed by southern blot analysis showing a 100-120 repeat expansion of the CGG trinucleotide. FXTAS is recently described and is likely under-diagnosed and possibly quite frequent in men aged over 60.
A diagnosis of FXTAS has implications for genetic counselling of female relatives.
© 2007 Elsevier Masson SAS. Tous droits réservés.