Dominantly inherited early-onset non-progressive cerebellar ataxia syndrome

Brain Dev. Sep-Oct 1993;15(5):372-6. doi: 10.1016/0387-7604(93)90124-q.

Abstract

A mother and daughter with suspected dominantly inherited, early-onset, non-progressive cerebellar ataxia syndrome have been reported. A review of the literature and the clinical features of the present cases revealed the nosologic features of this rare disorder, possibly dominant inheritance, floppiness and delayed milestones preceding early-onset mild cerebellar ataxia, non-progressive clinical course, retained or even brisk tendon reflexes without pyramidal tract involvement, normal or slightly delayed intelligence, and occasional nystagmus. Neuroimaging reveals selective involvement of the cerebellum, which is prominent in the vermis and the anterior part of the hemispheres.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Brain / diagnostic imaging
  • Brain / pathology
  • Cerebellar Ataxia / diagnostic imaging
  • Cerebellar Ataxia / genetics*
  • Cerebellar Ataxia / pathology
  • Cerebellum / diagnostic imaging
  • Cerebellum / pathology
  • Child, Preschool
  • Female
  • Genes, Dominant
  • Humans
  • Magnetic Resonance Imaging
  • Pedigree
  • Tomography, X-Ray Computed