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Article

Sandhoff disease in the elderly: a case study.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Feb 2022

García Morales Leidy, Mustelier Bécquer Reinaldo Gaspar, Pérez Joglar Laura, Zaldívar Vaillant Tatiana

Abstract excerpt

Sandhoff disease is an infrequent, genetically caused disorder with a recessive autosomal inheritance pattern. It belongs to the gangliosidosis GM2 group and is produced by mutations in gen HEXB leading to reduction in enzymatic activity of enzymes β-hexosaminidase A and B. Adult-onset GM2 gangliosidosis is rare. Here we report a white male who presented at age 69 with a fast-progression, motor neuron disease,...

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Identifiers

PMID: 33650927
DOI: 10.1080/21678421.2021.1892146

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