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Article

Progressive cerebellar ataxia, proximal neurogenic weakness and ocular motor disturbances: hexosaminidase A deficiency with late clinical onset in four siblings.

Journal of the neurological sciences - 1 Jan 1997

Hund E, Grau A, Fogel W, Forsting M, Cantz M, Kustermann-Kuhn B, Harzer K, Navon R, Goebel H H, Meinck H M

Abstract excerpt

Tay-Sachs disease is a genetically determined neurodegenerative disorder, resulting from mutations of the hexosaminidase (Hex) A gene coding for the alpha-subunit of beta-D-N-acetyl-hexosaminidase. Clinically, there is severe encephalomyelopathy leading to death within the first few years of life...

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Identifiers

PMID: 9073025
DOI: 10.1016/s0022-510x(96)00233-x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-9073025-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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