Evidence of a genetic marker associated with early onset in Friedreich's ataxia

J Neurol. 1993;240(4):254-6. doi: 10.1007/BF00818715.

Abstract

We evaluated the association between age at onset of Friedreich's ataxia and alleles of two restriction fragment length polymorphisms (RFLP) at D9S15 and D9S5 in the 9q13-9q21.1 region. We studied 65 Italian patients from 49 families. Age at onset was not normally distributed in our patients, suggesting allelic heterogeneity. Patients homozygous for allele 1 of MspI RFLP detected by probe MCT112 at D9S15 (M1) had an earlier onset (mean 9.3, SD 3.4 years) than patients homozygous for allele 2 (M2; mean 12.1, SD 4.3). Heterozygotes had an onset age similar to that of the M2 homozygotes. These findings suggest that the M1 allele might be a marker of one allelic early-onset Friedreich's ataxia mutation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Age Factors
  • Alleles*
  • Child
  • Child, Preschool
  • Friedreich Ataxia / genetics*
  • Genetic Markers
  • Genotype
  • Humans
  • Polymorphism, Genetic*

Substances

  • Genetic Markers

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