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Article

Late-onset Tay-Sachs disease presenting with a neuromuscular phenotype-a case series.

European journal of neurology - 1 Jan 2024

Fullam Sarah, Togher Zara, Power Alan, Kennelly Laura, McHugh John C, O'Dowd Sean, Tubridy Niall, Hardiman Orla, Costigan Donal, Ryan Aisling, Lefter Stela, Connolly Sean, Murphy Sinead M

Abstract excerpt

BACKGROUND AND PURPOSE: Tay-Sachs disease is a rare and often fatal, autosomal recessive, lysosomal storage disease. Deficiency in β-hexosaminidase leads to accumulation of GM2 ganglioside resulting in neuronal swelling and degeneration. Typical onset is in infancy with developmental regression and early death. Late-onset Tay-Sachs disease (LOTS) is extremely rare, especially in the non-Ashkenazi Jewish...

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Identifiers

PMID: 37754769
DOI: 10.1111/ene.16069
PMCID: PMC11235873

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