Brussino, A; Gellera, C; Saluto, A; Mariotti, C; Arduino, C; Castellotti, B; Camerlingo, M; de Angelis, V; Orsi, L; Tosca, P; Migone, N; Taroni, F; Brusco, A
Neurology,
01/2005, Letnik:
64, Številka:
1
Journal Article
In an Italian population of 275 unrelated men affected by adult-onset sporadic progressive cerebellar ataxia, the authors found six patients carrying an FMR1 gene premutation. Age at onset (range, 53 to 69 years) and clinical-neuropathologic findings were consistent with the fragile-X tremor ataxia syndrome (FXTAS), although tremor was not as common as previously described. FXTAS accounted for 4.2% of the cases diagnosed at >50 years, suggesting that it is a frequent genetic cause of late-onset sporadic ataxia.
