{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,25]],"date-time":"2026-07-25T15:50:02Z","timestamp":1784994602680,"version":"3.55.0"},"reference-count":12,"publisher":"BMJ","issue":"1","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Pract Neurol"],"accepted":{"date-parts":[[2023,7,23]]},"published-print":{"date-parts":[[2024,2]]},"abstract":"<jats:p>A previously healthy 27-year-old man was admitted to the acute neurology ward with events involving his face, throat and upper limb, which video telemetry later confirmed were refractory focal seizures. He also had progressive pyramidal features, dysarthria and ataxia. MR scans of the brain identified progressive bilateral basal ganglia abnormalities, consistent with Leigh syndrome. However, extensive laboratory and genetic panels did not give a unifying diagnosis. A skeletal muscle biopsy showed no histopathological abnormalities on routine stains. Sequencing of the entire mitochondrial genome in skeletal muscle identified a well-characterised pathogenic variant (m.10191T&gt;C in <jats:italic>MT-ND3<\/jats:italic>; NC_012920.1) at 85% heteroplasmy in skeletal muscle. We discuss the clinical and molecular diagnosis of an adult presenting with Leigh syndrome, which is more commonly a paediatric presentation of mitochondrial disease, and how early recognition of a mitochondrial cause is important to support patient care.<\/jats:p>","DOI":"10.1136\/pn-2023-003862","type":"journal-article","created":{"date-parts":[[2023,8,11]],"date-time":"2023-08-11T13:21:06Z","timestamp":1691760066000},"page":"45-50","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":4,"title":["Leigh syndrome: an adult presentation of a paediatric disease"],"prefix":"10.1136","volume":"24","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7909-2918","authenticated-orcid":false,"given":"Taylor","family":"Watson-Fargie","sequence":"first","affiliation":[{"name":"Neurology, Institute of Neurological Sciences, Glasgow, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victoria","family":"Marshall","sequence":"additional","affiliation":[{"name":"Neurology, Institute of Neurological Sciences, Glasgow, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natasha E","family":"Fullerton","sequence":"additional","affiliation":[{"name":"Neuroradiology, Institute of Neurological Sciences, Glasgow, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veronica","family":"Leach","sequence":"additional","affiliation":[{"name":"Neurophysiology, Institute of Neurological Sciences, Glasgow, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Pilz","sequence":"additional","affiliation":[{"name":"West of Scotland Genomics Service, Queen Elizabeth University Hospital, Glasgow, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte V Y","family":"Hemingbrough","sequence":"additional","affiliation":[{"name":"NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sila","family":"Hopton","sequence":"additional","affiliation":[{"name":"NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert W","family":"Taylor","sequence":"additional","affiliation":[{"name":"NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK"},{"name":"Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, The Medical School, Newcastle University, Newcastle upon Tyne, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi S","family":"Ng","sequence":"additional","affiliation":[{"name":"NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK"},{"name":"Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, The Medical School, Newcastle University, Newcastle upon Tyne, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Schaefer","sequence":"additional","affiliation":[{"name":"NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK"},{"name":"Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, The Medical School, Newcastle University, Newcastle upon Tyne, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gr\u00e1inne S","family":"Gorman","sequence":"additional","affiliation":[{"name":"NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK"},{"name":"Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, The Medical School, Newcastle University, Newcastle upon Tyne, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Elena","family":"Farrugia","sequence":"additional","affiliation":[{"name":"Neurology, Institute of Neurological Sciences, Glasgow, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2023,8,11]]},"reference":[{"key":"2025090409383684000_24.1.45.1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410390311"},{"key":"2025090409383684000_24.1.45.2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2015.12.004"},{"key":"2025090409383684000_24.1.45.3","doi-asserted-by":"publisher","DOI":"10.1016\/j.jocn.2011.09.009"},{"key":"2025090409383684000_24.1.45.4","doi-asserted-by":"publisher","DOI":"10.1038\/nrg3966"},{"key":"2025090409383684000_24.1.45.5","doi-asserted-by":"crossref","DOI":"10.3389\/fphys.2021.693734","article-title":"Leigh syndrome: a tale of two Genomes","volume":"12","author":"Bakare","year":"2021","journal-title":"Front Physiol"},{"key":"2025090409383684000_24.1.45.6","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24551"},{"key":"2025090409383684000_24.1.45.7","doi-asserted-by":"crossref","first-page":"16080","DOI":"10.1038\/nrdp.2016.80","article-title":"Mitochondrial diseases","volume":"2","author":"Gorman","year":"2016","journal-title":"Nat Rev Dis Primers"},{"key":"2025090409383684000_24.1.45.8","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25525"},{"key":"2025090409383684000_24.1.45.9","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10787"},{"key":"2025090409383684000_24.1.45.10","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2012.04224.x"},{"key":"2025090409383684000_24.1.45.11","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2012-304426"},{"key":"2025090409383684000_24.1.45.12","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24362"}],"container-title":["Practical Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/pn-2023-003862","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,4]],"date-time":"2025-09-04T16:38:42Z","timestamp":1757003922000},"score":1,"resource":{"primary":{"URL":"https:\/\/pn.bmj.com\/lookup\/doi\/10.1136\/pn-2023-003862"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8,11]]},"references-count":12,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,1,23]]},"published-print":{"date-parts":[[2024,2]]}},"alternative-id":["10.1136\/pn-2023-003862"],"URL":"https:\/\/doi.org\/10.1136\/pn-2023-003862","relation":{},"ISSN":["1474-7758","1474-7766"],"issn-type":[{"value":"1474-7758","type":"print"},{"value":"1474-7766","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,8,11]]}}}