title: Movement disorders associated with chronic GM2 gangliosidosis. Case report and review of the literature.
abstract: A 24-year-old man presented with dystonia, dementia, amyotrophy, choreoathetosis, 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.
authors.forename: C E
authors.initials: CE
authors.lastname: Oates
authors.forename: E P
authors.initials: EP
authors.lastname: Bosch
authors.forename: M N
authors.initials: MN
authors.lastname: Hart
mesh_terms: D000328:Adult; D001264:Athetosis / Q000175:diagnosis; D002819:Chorea / Q000175:diagnosis; D004421:Dystonia / Q000175:diagnosis; D005678:G(M2) Ganglioside; D005733:Gangliosidoses / Q000175:diagnosis*; D006801:Humans; D008297:Male; D009069:Movement Disorders / Q000175:diagnosis*; D013577:Syndrome
chemical_list: D005678:G(M2) Ganglioside