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We suspected a form of GM<jats:sub>2<\/jats:sub> gangliosidosis, and white cell enzyme analysis showed markedly reduced enzymatic activity of \u03b2-hexosaminidase A. Genetic testing subsequently revealed two heterozygous pathogenic mutations in the <jats:italic>HEXA<\/jats:italic> gene (c.1499delT p.(Leu500fs) and c.805G&gt;A p.(Gly269Ser)), confirming the very rare diagnosis of adult-onset Tay\u2013Sachs disease.<\/jats:p>","DOI":"10.1136\/practneurol-2017-001665","type":"journal-article","created":{"date-parts":[[2017,9,19]],"date-time":"2017-09-19T08:15:13Z","timestamp":1505808913000},"page":"396-399","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":24,"title":["Late-onset Tay\u2013Sachs disease"],"prefix":"10.1136","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9723-6946","authenticated-orcid":false,"given":"Andrew W","family":"Barritt","sequence":"first","affiliation":[{"name":"Department of Neurology, Hurstwood Park Neurosciences Centre, Haywards Heath, UK"},{"name":"Clinical Imaging Sciences Centre, Brighton and Sussex Medical School, Falmer, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stuart J","family":"Anderson","sequence":"additional","affiliation":[{"name":"Department of Neurology, Hurstwood Park Neurosciences Centre, Haywards Heath, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P Nigel","family":"Leigh","sequence":"additional","affiliation":[{"name":"Department of Neurology, Hurstwood Park Neurosciences Centre, Haywards Heath, UK"},{"name":"Trafford Centre for Biomedical Research, Brighton and Sussex Medical School, University of Sussex, Falmer, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Basil H","family":"Ridha","sequence":"additional","affiliation":[{"name":"Department of Neurology, Hurstwood Park Neurosciences Centre, Haywards Heath, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2017,7,24]]},"reference":[{"key":"2025090410343916000_17.5.396.1","first-page":"85","article-title":"Amyotrophic lateral sclerosis mimic syndromes","volume":"15","author":"Ghasemi","year":"2016","journal-title":"Iran J Neurol"},{"key":"2025090410343916000_17.5.396.2","doi-asserted-by":"publisher","DOI":"10.1136\/practneurol-2013-000557"},{"key":"2025090410343916000_17.5.396.3","doi-asserted-by":"publisher","DOI":"10.1016\/j.nicl.2016.02.008"},{"key":"2025090410343916000_17.5.396.4","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-014-1251-9"},{"key":"2025090410343916000_17.5.396.5","doi-asserted-by":"publisher","DOI":"10.1016\/j.survophthal.2013.02.005"},{"key":"2025090410343916000_17.5.396.6","first-page":"107","article-title":"Late-onset Tay-Sachs disease","volume":"6","author":"Neudorfer","year":"2004","journal-title":"Isr Med Assoc J"},{"key":"2025090410343916000_17.5.396.7","doi-asserted-by":"publisher","DOI":"10.1176\/jnp.10.1.10"},{"key":"2025090410343916000_17.5.396.8","unstructured":"Stryer L . 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