Adult Onset Tay Sachs Disease Manuscript FINAL 15th May 2017.pdf (127.08 kB)
Late-onset Tay-Sachs disease
journal contribution
posted on 2023-06-09, 07:37 authored by Andrew BarrittAndrew Barritt, Stuart J Anderson, Nigel LeighNigel Leigh, Basil H RidhaWe 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 NeurologyISSN
1474-7766Publisher
BMJ Publishing groupExternal DOI
Issue
5Volume
17Page range
396-399Department affiliated with
- BSMS Neuroscience Publications
Full text available
- Yes
Peer reviewed?
- Yes
Legacy Posted Date
2017-08-14First Open Access (FOA) Date
2017-08-14First Compliant Deposit (FCD) Date
2017-08-14Usage metrics
Categories
No categories selectedKeywords
Licence
Exports
RefWorks
BibTeX
Ref. manager
Endnote
DataCite
NLM
DC