Progressive dystonia symptomatic of juvenile GM2 gangliosidosis.

doi:10.1002/mds.870070113

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Article

Progressive dystonia symptomatic of juvenile GM2 gangliosidosis.

Movement disorders : official journal of the Movement Disorder Society - 1 Jan 1992

Nardocci N, Bertagnolio B, Rumi V, Angelini L

Abstract excerpt

A 9-year-old boy showed a progressive generalized dystonia, with onset at the age of 4 years, combined with mental deterioration and behavioral disturbances. The values of beta-hexosaminidase activities studied in plasma, leukocytes, and fibroblasts obtained using two different substrates (MUG-NAc and MUG-NAc-6-S) were significantly reduced but higher than in Tay-Sachs disease and similar to those found in the...

Topics

Child
Dystonia
Fibroblasts
Humans
Intellectual Disability
Leukocytes
Male
Neurologic Examination
Phenotype
Sandhoff Disease
beta-N-Acetylhexosaminidases

Source

Open in PubMed

Identifiers

PMID: 1532632
DOI: 10.1002/mds.870070113

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1532632-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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