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Short Reports

Sandhoff disease in the elderly: a case study

ORCID Icon, , ORCID Icon & ORCID Icon
Pages 137-138 | Received 02 Jan 2021, Accepted 10 Feb 2021, Published online: 02 Mar 2021
 

Abstract

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, mimicking amyotrophic lateral sclerosis (ALS), combined with autonomic dysfunction, sensory ataxia, and exaggerated startle to noise. Enzymatic assays demonstrated deficiency of both Hexosaminidases A and B leading to the diagnosis of Sandhoff disease.

Declaration of interest

There is not any financial interest or benefit that has arisen from the direct applications of this case.

Additional information

Funding

This work was supported by the Ministry of Public Health of Cuba.

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