Early-onset ataxia with cardiomyopathy and retained tendon reflexes maps to the Friedreich's ataxia locus on chromosome 9q

Ann Neurol. 1995 Mar;37(3):359-62. doi: 10.1002/ana.410370312.

Abstract

Absence of lower limb tendon reflexes has been considered an essential diagnostic criterion for Friedreich's ataxia (FA). However, preservation of knee and ankle jerks has been reported in a few patients. Linkage analysis to FA locus (FRDA) on chromosome 9q13-21.1 was performed in 11 patients from 6 families with FA phenotype, including cardiomyopathy, but retained reflexes (FARR). A maximal lod score of 3.38 at recombination fraction theta equal to 0.00 was obtained demonstrating that FARR maps to the FRDA locus. These results suggest that FARR is a variant phenotype of FA.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Atrophy
  • Cardiomyopathy, Hypertrophic / diagnosis
  • Cardiomyopathy, Hypertrophic / etiology*
  • Cardiomyopathy, Hypertrophic / genetics
  • Cerebellum / pathology
  • Child
  • Child, Preschool
  • Chromosome Mapping*
  • Chromosomes, Human, Pair 9*
  • Echocardiography
  • Female
  • Friedreich Ataxia / complications
  • Friedreich Ataxia / genetics*
  • Friedreich Ataxia / physiopathology
  • Humans
  • Lod Score
  • Magnetic Resonance Imaging
  • Male
  • Pedigree
  • Phenotype
  • Point Mutation
  • Polymorphism, Restriction Fragment Length
  • Reflex, Stretch / physiology
  • Repetitive Sequences, Nucleic Acid
  • Spinal Cord / pathology

Grant support