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

A. Brussino, 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

Research output: Contribution to journalArticlepeer-review

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 languageEnglish
Pages (from-to)145-147
Number of pages3
JournalNeurology
Volume64
Issue number1
Publication statusPublished - Jan 11 2005

ASJC Scopus subject areas

  • Neuroscience(all)

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