Friedreich's ataxia I. Clinical, Neurophysiological and in vivo biochemical studies

A. D'Angelo, S. Di Donato, G. Crenna, S. Negri, F. Beulche, G. Uziel, R. Boeri

Research output: Contribution to journalArticlepeer-review

Abstract

Eighteen patients with the presumptive diagnosis of Friedreich's ataxia were studied. Clinical, neurophysiological and biochemical data were concordant in 14 patients and led to the diagnosis of typical Friedreich's ataxia in this group of patients: the remaining 4 patients differed from the typical patients in several respects but mainly in the cardiological findings. It is concluded that so far no single clinical or laboratory finding is typical of F.A.. Multidisciplinary approaches are essential to the diagnosis of Friedreich's ataxia.

Original languageEnglish
Pages (from-to)231-238
Number of pages8
JournalItalian Journal of Neurological Sciences
Volume1
Issue number3
DOIs
Publication statusPublished - Oct 1979

Keywords

  • Cardiomyopathy
  • Friedreich's ataxia
  • Lipoamide dehydrogenase
  • Neuropathy
  • Pyruvate test

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

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