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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 Kugelberg-Welander disease. beta-hexosaminidase A was determined with the sulfated synthetic substrate,...

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Identifiers

PMID: 9296123

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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