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.
Original language | English |
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Pages (from-to) | 145-147 |
Number of pages | 3 |
Journal | Neurology |
Volume | 64 |
Issue number | 1 |
Publication status | Published - Jan 11 2005 |
ASJC Scopus subject areas
- Neuroscience(all)