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

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

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age of Onset
  • Aged
  • Cerebellar Ataxia / etiology*
  • Cerebellar Ataxia / genetics*
  • Fragile X Mental Retardation Protein
  • Humans
  • Male
  • Mutation / genetics*
  • Nerve Tissue Proteins / genetics*
  • RNA-Binding Proteins / genetics*
  • Trinucleotide Repeat Expansion / genetics

Substances

  • FMR1 protein, human
  • Nerve Tissue Proteins
  • RNA-Binding Proteins
  • Fragile X Mental Retardation Protein