Magnetic resonance imaging in "typical" and "late onset" Friedreich's disease and early onset cerebellar ataxia with retained tendon reflexes

Ital J Neurol Sci. 1995 Jun;16(5):303-8. doi: 10.1007/BF02249105.

Abstract

MRI makes it possible to study the in vivo brain and spinal cord morphology of patients with hereditary ataxia. We performed T1- and T2-weighted studies in eleven patients with Friedreich's disease (FD), five with "late onset" FD and ten with early onset cerebellar ataxia with retained tendon reflexes (EOCA). Cervical cord atrophy was constant in FD and "late onset" FD and often associated with atrophy of the cerebellum and of the brainstem; T2-weighted studies showed posterior column degeneration in the cervical cord. The most frequent finding in EOCA was cerebellar atrophy, pure or associated with cervical cord or brainstem atrophy; the cerebellar atrophy was marked in a few cases and was related to disease duration.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Central Nervous System / pathology
  • Cerebellar Ataxia / diagnosis*
  • Cerebellar Ataxia / epidemiology
  • Cerebellar Ataxia / physiopathology*
  • Child
  • Disease Progression
  • Female
  • Friedreich Ataxia / diagnosis*
  • Friedreich Ataxia / epidemiology*
  • Friedreich Ataxia / physiopathology
  • Humans
  • Magnetic Resonance Imaging*
  • Male
  • Middle Aged
  • Reflex, Stretch*
  • Time Factors