{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T10:13:18Z","timestamp":1785838398675,"version":"3.56.0"},"reference-count":15,"publisher":"BMJ","issue":"2","license":[{"start":{"date-parts":[[2022,12,8]],"date-time":"2022-12-08T00:00:00Z","timestamp":1670457600000},"content-version":"unspecified","delay-in-days":7,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Neurol Open"],"accepted":{"date-parts":[[2022,11,22]]},"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Mitochondrial disorders are known to cause diverse neurological phenotypes which cause a diagnostic challenge to most neurologists. Pathogenic polymerase gamma (<jats:italic>POLG<\/jats:italic>) variants have been described as a cause of chronic progressive external ophthalmoplegia, which manifests with ptosis, horizontal and vertical eye movement restriction and myopathy. Autosomal dominant progressive external ophthalmoplegia is rarely associated with Parkinsonism responsive to levodopa.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>We report a case of a 58-year-old man who presented with an eye movement disorder then Parkinsonism who made his way through the myasthenia then the movement disorder clinic.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>A diagnostic right tibialis anterior biopsy revealed classical hallmarks of mitochondrial disease, and genetic testing identified compound heterozygous pathogenic gene variants in the <jats:italic>POLG<\/jats:italic> gene. The patient was diagnosed with autosomal recessive <jats:italic>POLG<\/jats:italic> disease.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>It is important to maintain a high index of suspicion of pathogenic <jats:italic>POLG<\/jats:italic> variants in patients presenting with atypical Parkinsonism and ophthalmoplegia. Patients with <jats:italic>POLG<\/jats:italic>-related disease will usually have ptosis, and downgaze is typically preserved until late in the disease. Accurate diagnosis is essential for appropriate prognosis and genetic counselling.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/bmjno-2022-000352","type":"journal-article","created":{"date-parts":[[2022,12,8]],"date-time":"2022-12-08T09:40:28Z","timestamp":1670492428000},"page":"e000352","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":5,"title":["Changing faces of mitochondrial disease: autosomal recessive <i>POLG<\/i> disease mimicking myasthenia gravis and progressive supranuclear palsy"],"prefix":"10.1136","volume":"4","author":[{"given":"Menatalla","family":"Elwan","sequence":"first","affiliation":[{"name":"Department of Neurology, Royal Victoria Infirmary, Newcastle upon Tyne, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew M","family":"Schaefer","sequence":"additional","affiliation":[{"name":"Department of Neurology, Royal Victoria Infirmary, Newcastle upon Tyne, UK"},{"name":"Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kate","family":"Craig","sequence":"additional","affiliation":[{"name":"Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sila","family":"Hopton","sequence":"additional","affiliation":[{"name":"Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gavin","family":"Falkous","sequence":"additional","affiliation":[{"name":"Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma L","family":"Blakely","sequence":"additional","affiliation":[{"name":"Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert W","family":"Taylor","sequence":"additional","affiliation":[{"name":"Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, UK"},{"name":"NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle University, Newcastle upon Tyne, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naomi","family":"Warren","sequence":"additional","affiliation":[{"name":"Department of Neurology, Royal Victoria Infirmary, Newcastle upon Tyne, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2022,12,8]]},"reference":[{"key":"2025072812162309000_4.2.e000352.1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.177"},{"key":"2025072812162309000_4.2.e000352.2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201002"},{"key":"2025072812162309000_4.2.e000352.3","doi-asserted-by":"publisher","DOI":"10.1038\/s41582-018-0101-0"},{"key":"2025072812162309000_4.2.e000352.4","unstructured":"Cohen BH , Chinnery PF , Copeland WC . POLG-related disorders. In: Adam MP , Everman DB , Mirzaa GM , et al , eds. Gene reviews. Seattle (WA): University of Washington, 1993-2022, 2010. https:\/\/www.ncbi.nlm.nih.gov\/books\/"},{"key":"2025072812162309000_4.2.e000352.5","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-015-7884-3"},{"key":"2025072812162309000_4.2.e000352.6","doi-asserted-by":"crossref","DOI":"10.1101\/cshperspect.a011395","article-title":"Clinical and molecular features of POLG-related mitochondrial disease","volume":"5","author":"Stumpf","year":"2013","journal-title":"Cold Spring Harb Perspect Biol"},{"key":"2025072812162309000_4.2.e000352.7","doi-asserted-by":"crossref","DOI":"10.1038\/s41598-017-14623-2","article-title":"Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial complex I deficiency","volume":"7","author":"Ahmed","year":"2017","journal-title":"Sci Rep"},{"key":"2025072812162309000_4.2.e000352.8","doi-asserted-by":"publisher","DOI":"10.1016\/j.clineuro.2014.08.020"},{"key":"2025072812162309000_4.2.e000352.9","doi-asserted-by":"crossref","DOI":"10.1186\/1471-2350-14-105","article-title":"Dopamine-agonist responsive Parkinsonism in a patient with the SANDO syndrome caused by POLG mutation","volume":"14","author":"Bandettini di Poggio","year":"2013","journal-title":"BMC Med Genet"},{"key":"2025072812162309000_4.2.e000352.10","doi-asserted-by":"crossref","DOI":"10.1186\/1471-2377-13-92","article-title":"Novel polymerase gamma (POLG1) gene mutation in the linker domain associated with parkinsonism","volume":"13","author":"Dolhun","year":"2013","journal-title":"BMC Neurol"},{"key":"2025072812162309000_4.2.e000352.11","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-011-5936-x"},{"key":"2025072812162309000_4.2.e000352.12","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1080\/00207454.2019.1681422","article-title":"Novel POLG mutation in a patient with early-onset parkinsonism, progressive external ophthalmoplegia and optic atrophy","volume":"130","author":"Ma","year":"2020","journal-title":"Int J Neurosci"},{"key":"2025072812162309000_4.2.e000352.13","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20831"},{"key":"2025072812162309000_4.2.e000352.14","doi-asserted-by":"publisher","DOI":"10.1002\/mds.26987"},{"key":"2025072812162309000_4.2.e000352.15","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awh488"}],"container-title":["BMJ Neurology Open"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bmjno-2022-000352","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,7,28]],"date-time":"2025-07-28T19:16:28Z","timestamp":1753730188000},"score":1,"resource":{"primary":{"URL":"https:\/\/neurologyopen.bmj.com\/lookup\/doi\/10.1136\/bmjno-2022-000352"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12]]},"references-count":15,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2022,12,8]]},"published-print":{"date-parts":[[2022,12]]}},"alternative-id":["10.1136\/bmjno-2022-000352"],"URL":"https:\/\/doi.org\/10.1136\/bmjno-2022-000352","relation":{},"ISSN":["2632-6140"],"issn-type":[{"value":"2632-6140","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,12]]}}}