[GM2-Gangliosidosis variant B1 disclosed during adolescence by an isolated multi-systemic involvement of the central and peripheral nervous systems].

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Article

[GM2-Gangliosidosis variant B1 disclosed during adolescence by an isolated multi-systemic involvement of the central and peripheral nervous systems].

Revue neurologique - 1 Jan 1994

Le Coz P, Assouline E, Vanier M T, Goutières F, Mikol J, Woimant F, Pinard J M, Aicardi J, Haguenau M

Abstract excerpt

The authors report on a Portuguese family with 3 adult brothers affected with GM2-gangliosidosis (B1 variant) in a sibship of 4, and more specifically on one of these brothers with neurological onset at the age of 17. Psychosis, lower motoneuron involvement and dysarthria were predominant in two...

Topics

Adolescent
Adult
Central Nervous System Diseases
G(M2) Ganglioside
Genetic Variation
Hexosaminidase A
Humans
Male
Muscular Atrophy
Mutation
Peripheral Nervous System Diseases
Portugal
Tay-Sachs Disease
beta-N-Acetylhexosaminidases

Source

Open in PubMed

Identifiers

PMID: 7801043

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7801043-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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