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Article

[Juvenile GM2 gangliosidosis with progressive spinal muscular atrophy onset].

Revue neurologique - 1 Mar 1997

Rondot P, Navon R, Eymard B, Fardeau M, Turpin J C, Lefevre M, Bathien N, Wu Y, Baumann N

Abstract excerpt

GM2 gangliosidosis are caused by a beta-hexosaminidase A enzyme deficiency. Mutations in the gene leaving residual enzyme activity give rise to juvenile and adult forms of the disease which have a great clinical heterogeneity. We report three cases which have been considered for some time as Kuge...

Topics

Adult
Female
Genetic Variation
Heterozygote
Hexosaminidase A
Humans
Male
Muscular Atrophy, Spinal
Mutation
Sandhoff Disease
beta-N-Acetylhexosaminidases

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Identifiers

PMID: 9296123

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9296123-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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