{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,10]],"date-time":"2026-03-10T03:58:43Z","timestamp":1773115123419,"version":"3.50.1"},"reference-count":8,"publisher":"BMJ","issue":"3","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2019,3,12]]},"published-print":{"date-parts":[[2019,3]]},"abstract":"<jats:p>Leber\u2019s hereditary optic neuropathy (LHON) is a mitochondrially inherited disorder characterised by bilateral, painless visual loss which leads to severe optic atrophy. It can be associated with other conditions including multiple sclerosis (MS), movement disorders, epilepsy and cardiac arrhythmias. The association of LHON with an MS-like illness is often referred to as Harding\u2019s disease (or Harding\u2019s syndrome). We report two siblings, who both harbour the 11\u2009778 mitochondrial DNA (mtDNA) mutation, but who manifest markedly different clinical phenotypes; a male with classical LHON and a female with an MS-like illness. LHON affects males four to five times more often than females. By contrast, Harding\u2019s disease is seen predominantly in females, in a pattern comparable to that seen in MS. The pathogenic basis behind the variation in penetrance and phenotype between genders and individual family members remains unclear.<\/jats:p>","DOI":"10.1136\/bcr-2018-228337","type":"journal-article","created":{"date-parts":[[2019,4,2]],"date-time":"2019-04-02T05:14:49Z","timestamp":1554182089000},"page":"e228337","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":12,"title":["Harding\u2019s disease: an important MS mimic"],"prefix":"10.1136","volume":"12","author":[{"given":"Stuti","family":"Joshi","sequence":"first","affiliation":[{"name":"Department of Neurology, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Allan G","family":"Kermode","sequence":"additional","affiliation":[{"name":"The Perron Institute for Neurological and Translational Science, Nedlands, Western Australia, Australia"},{"name":"Murdoch University, Institute for Immunology and Infectious Diseases, Murdoch, Western Australia, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2019,3,31]]},"reference":[{"key":"2025082801495713000_12.3.e228337.1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/115.4.979"},{"key":"2025082801495713000_12.3.e228337.2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2009.09.009"},{"key":"2025082801495713000_12.3.e228337.3","unstructured":"Yu-Wai-Man P , Chinnery PF . Leber hereditary optic neuropathy. In: Pagon RA MP , Adam Ardinger HH , eds. GeneReviews. Seattle, WA: University of Washington, Seattle, 2013. (Accessed 7 May 2018)."},{"key":"2025082801495713000_12.3.e228337.4","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000437308.22603.43"},{"key":"2025082801495713000_12.3.e228337.5","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2014-308186"},{"key":"2025082801495713000_12.3.e228337.6","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1016\/S0005-2728(98)00163-7","article-title":"Clinical, biochemical and molecular genetic features of Leber\u2019s hereditary optic neuropathy","volume":"1410","author":"Chalmers","year":"1999","journal-title":"Biochim Biophys Acta"},{"key":"2025082801495713000_12.3.e228337.7","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.52.5.671"},{"key":"2025082801495713000_12.3.e228337.8","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awp158"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2018-228337","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T08:50:05Z","timestamp":1756371005000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2018-228337"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,3]]},"references-count":8,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2019,3,31]]},"published-print":{"date-parts":[[2019,3]]}},"alternative-id":["10.1136\/bcr-2018-228337"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2018-228337","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,3]]}}}