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Article

A new mutation in the HEXA gene associated with a spinal muscular atrophy phenotype.

Neurology - 1 Mar 1995

Navon R, Khosravi R, Korczyn T, Masson M, Sonnino S, Fardeau M, Eymard B, Lefevre M, Turpin J C, Rondot P

Abstract excerpt

We describe two adult siblings who had had mild GM2 gangliosidosis since childhood. They presented with spinal muscular atrophy and dysarthria, and one sibling also had mental disturbances. Laboratory studies established the diagnosis of the B1 variant of GM2 gangliosidosis, because the hexosaminidase (Hex) A deficiency was not present upon testing with the unsulfated synthetic substrate 4-methylumbelliferyl...

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Share to Phenotype
Share to Base Sequence
Share to beta-N-Acetylhexosaminidases

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Molecular Sequence Data

Share to Muscular Atrophy, Spinal

Share to Mutation

Share to Polymerase Chain Reaction

Share to Polymorphism, Single-Stranded Conformational

Source

Identifiers

PMID: 7898712
DOI: 10.1212/wnl.45.3.539

Genes

HEXA

Provenance

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.

Related research

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

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A new mutation in the HEXA gene associated with a spinal muscular atrophy phenotype.PMID 7898712Read ↗

Compound heterozygosity with two novel mutations in the HEXB gene produces adult Sandhoff disease presenting as a motor neuron disease phenotype.Semantic proximity Read ↗

The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis.Semantic proximity Read ↗

Late-onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180-->His) in the Hex A alpha-chain gene.Semantic proximity Read ↗

GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.Semantic proximity Read ↗

An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds.Semantic proximity Read ↗

Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) homozygosity for the Ile207-->Val substitution is not associated with a clinical or biochemical phenotype.Semantic proximity Read ↗

GM2 gangliosidosis B1 variant: biochemical and molecular characterization of hexosaminidase A.Semantic proximity Read ↗

Molecular basis of an adult form of beta-hexosaminidase B deficiency with motor neuron disease.Semantic proximity Read ↗

Eight novel mutations in the HEXA gene.Semantic proximity Read ↗

A pathogenic HEXA missense variant in wild boars with Tay-Sachs disease.Semantic proximity Read ↗

Clinical, enzymatic, and molecular characterisation of a Portuguese family with a chronic form of GM2-gangliosidosis B1 variant.Semantic proximity Read ↗

Adult Sandhoff disease with 2 mutations in the HEXB gene presenting as brachial amyotrophic diplegia.Semantic proximity Read ↗

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