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Late-onset Tay–Sachs disease
  1. Andrew W Barritt1,2,
  2. Stuart J Anderson1,
  3. P Nigel Leigh1,3,
  4. Basil H Ridha1
  1. 1Department of Neurology, Hurstwood Park Neurosciences Centre, Haywards Heath, UK
  2. 2Clinical Imaging Sciences Centre, Brighton and Sussex Medical School, Falmer, UK
  3. 3Trafford Centre for Biomedical Research, Brighton and Sussex Medical School, University of Sussex, Falmer, UK
  1. Correspondence to Dr Andrew W Barritt, Department of Neurology, Hurstwood Park Neurosciences Centre, Haywards Heath, West Sussex, RH16 4EX, UK; awb{at}doctors.org.uk

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.

  • CEREBELLAR DEGENERATION
  • MOTOR CONTROL
  • NEUROGENETICS
  • NEUROPSYCHOLOGY
  • Hexosaminidase A Deficiency

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Footnotes

  • Contributors AWB performed a literature search and review and drafted the article. SJA performed a literature search, review of the literature and part-drafted the article. PNL and BHR provided clinical expertise and critical appraisal of the article for submission.

  • Competing interests None declared.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed. This paper was reviewed by Robin Lachmann, London, UK.

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