Observation of an excess of fragile-X premutations in a population of males referred with spinocerebellar ataxia

Hum Genet. 2003 May;112(5-6):619-20. doi: 10.1007/s00439-003-0939-z. Epub 2003 Feb 27.


Premutations of the fragile-X (FRAXA) gene were thought to have no clinical effects until recent reports of an increased incidence of premature ovarian failure in females and a late-onset neurological disorder in males. These patients were identified from families including typical fragile-X males with a full mutation. By analysing a cohort of patients with neurodegenerative disorders referred for genetic analysis of spinocerebellar ataxia genes, we have found that 3 of 59 males carry the premutation. Our patients extend the phenotype associated with the FRAXA premutation and indicate that it may account for a proportion of undiagnosed neurodegenerative disorders.

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Child
  • Fragile X Syndrome / genetics*
  • Humans
  • Male
  • Middle Aged
  • Mutation*
  • Spinocerebellar Ataxias / genetics*
  • Spinocerebellar Ataxias / physiopathology
  • Trinucleotide Repeat Expansion