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American Academy of Neurology (AAN), Neurology, 1(64), p. 145-147

DOI: 10.1212/01.wnl.0000148723.37489.3f

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

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This paper is available in a repository.

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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.