Friedreich ataxia.

Research output: Contribution to journalReview article

15 Scopus citations

Abstract

Friedreich ataxia is an autosomal recessive ataxia with onset usually before puberty whose characteristic clinical features include progressive ataxia of gait and limbs, dysarthria, loss of joint position and vibratory sense, absent knee and ankle jerks, and Babinski signs. Foot deformity, scoliosis, diabetes mellitus, and cardiac involvement are common and characteristic. Patients survive until about age 30 years although longer survivals occur. A later onset, more slowly progressive form seems to be an allelic variant. The basic process seems to be a dying-back of neuronal processes. Using linkage mapping techniques, the classical form of Friedreich ataxia has been localized to 9q13-q21, a region on the long arm of chromosome 9. Haplotype analysis, analysis of recombinants, and physical mapping techniques, including construction of a YAC contig, have narrowed the interval for the Friedreich ataxia gene, FRDA, to a few hundred thousand base pairs. Candidate genes in the region are being studied by techniques of mutation analysis. It is likely that the Freidreich ataxia gene will be cloned soon. A condition resembling Friedreich ataxia with decreased vitamin E levels has been localized to chromosome 8 and is discussed elsewhere.

Original languageEnglish (US)
Pages (from-to)33-38
Number of pages6
JournalClinical neuroscience (New York, N.Y.)
Volume3
Issue number1
StatePublished - 1995

All Science Journal Classification (ASJC) codes

  • Neuroscience(all)
  • Neuropsychology and Physiological Psychology

Fingerprint Dive into the research topics of 'Friedreich ataxia.'. Together they form a unique fingerprint.

  • Cite this