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. 2005 Jan 11;64(1):145-7.
doi: 10.1212/01.WNL.0000148723.37489.3F.

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

A Brussino  1 , C Gellera, A Saluto, C Mariotti, C Arduino, B Castellotti, M Camerlingo, V de Angelis, L Orsi, P Tosca, N Migone, F Taroni, A Brusco
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FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia

A Brussino et al. Neurology. .

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.

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