Movement disorders associated with chronic gm2 gangliosidosis: Case report and review of the literature

Charles E. Oates, E. Peter Bosch, Michael N. Hart

Research output: Contribution to journalArticle

26 Scopus citations

Abstract

A 24-year-old man presented with dystonia, dementia, amyotrophy, choreoathe-tosis, and ataxia. Partial hexosaminidase A deficiency was documented in serum and leukocytes and confirmed by rectal biopsy with ganglion cells containing membranous cytoplasmic bodies. A brief review of the literature reveals that tremor, dystonia and choreoathetosis are common but neglected symptoms associated with chronic GM2 gangliosidosis.

Original languageEnglish (US)
Pages (from-to)154-159
Number of pages6
JournalEuropean Neurology
Volume25
Issue number2
DOIs
StatePublished - Jan 1 1986

Keywords

  • Chronic G gangliosidosis
  • Dystonia
  • Movement disorders

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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