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Late-onset Tay-Sachs disease

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posted on 2023-06-09, 07:37 authored by Andrew BarrittAndrew Barritt, Stuart J Anderson, Nigel LeighNigel Leigh, Basil H Ridha
We discuss the assessment and differential diagnoses of a young adult Hungarian man with a 1-year history of a progressive and symmetric amyotrophic lateral sclerosis-like syndrome, along with irregular action tremor and stimulus-sensitive myoclonus of the arms. MR scan of the brain showed isolated cerebellar atrophy and formal neuropsychometric testing identified significant subclinical deficits in attention, processing speed and memory. We suspected a form of GM2 gangliosidosis, and white cell enzyme analysis showed markedly reduced enzymatic activity of ß-hexosaminidase A. Genetic testing subsequently revealed two heterozygous pathogenic mutations in the HEXA gene (c.1499delT p.(Leu500fs) and c.805G>A p.(Gly269Ser)), confirming the very rare diagnosis of adult-onset Tay-Sachs disease.

History

Publication status

  • Published

File Version

  • Accepted version

Journal

Practical Neurology

ISSN

1474-7766

Publisher

BMJ Publishing group

Issue

5

Volume

17

Page range

396-399

Department affiliated with

  • BSMS Neuroscience Publications

Full text available

  • Yes

Peer reviewed?

  • Yes

Legacy Posted Date

2017-08-14

First Open Access (FOA) Date

2017-08-14

First Compliant Deposit (FCD) Date

2017-08-14

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