title: [Fragile X premutation presenting as postural tremor and ataxia (FXTAS syndrome)].
abstract: We report a case of FXTAS in a 58-year-old man who presented with postural tremor, mild ataxia and dysexecutive cognitive signs. The syndrome had a slow progressive course. Brain imaging by MRI showed characteristic abnormalities with mild cerebellar atrophy, symmetric high signals in the middle cerebellar peduncles and in the subcortical white matter of cerebral hemispheres. The diagnosis was confirmed by molecular genetics showing by southern blot a 100-120 expansion repeat of the CGG trinucleotide. FXTAS is a recently described syndrome, still unknown by most neurologists and probably rather frequent in men older than 60. We emphasize the value of clinical evaluation and brain imaging by MRI in some patients presenting with non specific motor or cognitive symptoms. A diagnosis of FXTAS may have implications for genetic counselling of female relatives.
authors.affiliation: Service de Neurologie, Centre Hospitalier Victor-Dupouy, Argenteuil. patrick.davous@ch-argenteuil.fr
authors.forename: P
authors.initials: P
authors.lastname: Davous
authors.forename: R
authors.initials: R
authors.lastname: Juntas Morales
authors.forename: C
authors.initials: C
authors.lastname: Dupel-Pottier
authors.forename: E
authors.initials: E
authors.lastname: Bertolle
mesh_terms: D001259:Ataxia / Q000209:etiology*; D001284:Atrophy; D015139:Blotting, Southern; D001921:Brain / Q000473:pathology; D001933:Brain Stem / Q000473:pathology; D002531:Cerebellum / Q000473:pathology; D003072:Cognition Disorders / Q000209:etiology; D004569:Electroencephalography; D005600:Fragile X Syndrome / Q000150:complications* / Q000175:diagnosis / Q000523:psychology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011187:Posture / Q000502:physiology*; D013681:Tegmentum Mesencephali / Q000473:pathology; D014202:Tremor / Q000209:etiology*