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.

FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia

BRUSSINO, Alessandro;MIGONE, Nicola;BRUSCO, Alfredo
2005-01-01

Abstract

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.
2005
64
145
147
ataxia; FMR1 premutation; FXTAS; triplet repeats
BRUSSINO A; GELLERA C; SALUTO A; MARIOTTI C; ARDUINO C; CASTELLOTTI B; CAMERLINGO M; DE ANGELIS V; ORSI L; TOSCA P; N. MIGONE; TARONI F; BRUSCO A
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2318/38203
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