Genetic data and natural history of Friedreich's disease: a study of 80 Italian patients

J Neurol. 1990 Oct;237(6):345-51. doi: 10.1007/BF00315657.

Abstract

The clinical and genetic features of 80 patients with Friedreich's disease from 64 families are described. Diagnostic criteria were: no evidence of dominant inheritance, onset by the age of 20 years, progressive unremitting ataxia of limbs and gait, and absence of knee and ankle jerks. Furthermore, at least one of the following accessory signs was present: dysarthria, extensor plantar response and echocardiographic evidence of hypertrophic cardiomyopathy. Two peaks of onset age were evident at 6-9 and 12-15 years. Analysis of intra-family variation of onset age and absence of clustering of cardiomyopathy and diabetes did not suggest genetic heterogeneity. Peripheral nerve impairment was an early finding and showed slight further progression, whereas involvement of the cerebellar and corticospinal pathways appeared later and mainly accounted for the progressive worsening of the disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Cardiomyopathy, Hypertrophic / complications
  • Chi-Square Distribution
  • Child
  • Diabetes Complications
  • Female
  • Friedreich Ataxia* / complications
  • Friedreich Ataxia* / diagnosis
  • Friedreich Ataxia* / epidemiology
  • Friedreich Ataxia* / genetics
  • Humans
  • Italy / epidemiology
  • Male
  • Middle Aged
  • Pedigree