Two sisters with generalized dystonia associated with homocystinuria

Mov Disord. 1991;6(2):163-5. doi: 10.1002/mds.870060213.

Abstract

Two sisters with progressive dystonic syndromes and homocystinuria are presented. The biochemical defect was not accompanied by the typical clinical features of homocystinuria. Magnetic resonance imaging (MRI) revealed bilateral lesions of the basal ganglia. Homocystinuria should be considered among the causes of symptomatic or secondary dystonias associated with basal ganglia lesions.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Amino Acids / urine
  • Atrophy
  • Basal Ganglia / pathology
  • Cerebellum / pathology
  • Child
  • Dystonia / diagnosis
  • Dystonia / genetics*
  • Female
  • Homocystinuria / diagnosis
  • Homocystinuria / genetics*
  • Humans
  • Magnetic Resonance Imaging
  • Neurologic Examination

Substances

  • Amino Acids