Magnetic resonance imaging in the diagnosis of dominantly inherited cerebello-olivary atrophy: A clinicopathologic study

A. Bonni, R. Del Carpio-O'Donovan, Y. Robitaille, E. Andermann, F. Andermann, D. A. Arnold

Research output: Contribution to journalArticle

4 Scopus citations

Abstract

To facilitate the study of cerebellar degenerative disorders, improved clinical diagnosis is needed. Cerebello-olivary atrophy is pathologically distinct, but until now its diagnosis has been thought to require postmortem examination. This condition was considered as a possible diagnosis in two patients from different families with dominantly inherited ataxia. The affected members of each family demonstrated a stereotyped, progressive, 'pure' cerebellar syndrome, which began with gait ataxia followed years later by dysarthria and limb ataxia. The autopsy findings for the first patient's father revealed paleocerebellar and olivary atrophy, characteristic of cerebello-olivary atrophy. Magnetic resonance imaging (MRI) of the brain of both patients revealed medullary, vermian and, to a lesser extent, cerebellar hemispheric atrophy but a normal pons. Dominantly inherited cerebello-olivary atrophy was diagnosed in both patients. Characteristic clinical and MRI features thus permit a confident clinical diagnosis of dominantly inherited cerebello-olivary atrophy. Recognition of this entity during life should advance the classification of cerebellar degenerative disorders.

Original languageEnglish
Pages (from-to)194-198
Number of pages5
JournalCanadian Association of Radiologists Journal
Volume44
Issue number3
StatePublished - Jan 1 1993

Keywords

  • cerebellar degeneration
  • cerebello-olivary atrophy
  • familial progressive ataxia
  • inherited ataxia
  • magnetic resonance imaging of the brain

Fingerprint Dive into the research topics of 'Magnetic resonance imaging in the diagnosis of dominantly inherited cerebello-olivary atrophy: A clinicopathologic study'. Together they form a unique fingerprint.

  • Cite this

    Bonni, A., Del Carpio-O'Donovan, R., Robitaille, Y., Andermann, E., Andermann, F., & Arnold, D. A. (1993). Magnetic resonance imaging in the diagnosis of dominantly inherited cerebello-olivary atrophy: A clinicopathologic study. Canadian Association of Radiologists Journal, 44(3), 194-198.