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

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

doi:10.1159/000116100

Movement disorders associated with chronic g_m₂ gangliosidosis: Case report and review of the literature

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

Neurology

Research output: Contribution to journal › Article › peer-review

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 G_M2 gangliosidosis.

Original language	English (US)
Pages (from-to)	154-159
Number of pages	6
Journal	European Neurology
Volume	25
Issue number	2
DOIs	https://doi.org/10.1159/000116100
State	Published - 1986

Keywords

Chronic G gangliosidosis
Dystonia
Movement disorders

ASJC Scopus subject areas

Neurology
Clinical Neurology

Access to Document

10.1159/000116100

Cite this

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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.",

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