Barritt, Andrew W, Anderson, Stuart J, Leigh, P Nigel and Ridha, Basil H (2017) Late-onset Tay-Sachs disease. Practical Neurology, 17 (5). pp. 396-399. ISSN 1474-7766
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Abstract
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 β-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.
Item Type: | Article |
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Schools and Departments: | Brighton and Sussex Medical School > Neuroscience |
Subjects: | R Medicine > RC Internal medicine > RC0321 Neurosciences. Biological psychiatry. Neuropsychiatry > RC0346 Neurology. Diseases of the nervous system Including speech disorders |
Depositing User: | Patricia Butler |
Date Deposited: | 14 Aug 2017 12:25 |
Last Modified: | 02 Jul 2019 17:48 |
URI: | http://sro.sussex.ac.uk/id/eprint/69757 |
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