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Article

Late onset GM2 gangliosidosis mimicking spinal muscular atrophy.

Gene - 25 Sept 2013

Jamrozik Z, Lugowska A, Gołębiowski M, Królicki L, Mączewska J, Kuźma-Kozakiewicz M

Abstract excerpt

A case of late onset GM2 gangliosidodis with spinal muscular atrophy phenotype followed by cerebellar and extrapyramidal symptoms is presented. Genetic analysis revealed compound heterozygous mutation in exon 10 of the HEXA gene. Patient has normal intelligence and emotional reactivity. Neuroimaging tests of the brain showed only cerebellar atrophy consistent with MR spectroscopy (MRS) abnormalities....

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Share to Diagnosis, Differential
Share to HEXA gene
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23820084
DOI: 10.1016/j.gene.2013.06.030

Genes

HEXA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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