{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T12:30:30Z","timestamp":1753878630457,"version":"3.41.2"},"reference-count":5,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2024,7,8]],"date-time":"2024-07-08T00:00:00Z","timestamp":1720396800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2024,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background and purpose<\/jats:title><jats:p>Late\u2010onset mitochondrial disorders are diagnostically challenging with significant heterogeneity in disease presentation. A case is reported of a 67\u2010year\u2010old gentleman who presented with a 3\u2010month history of seizures, recurrent encephalopathy, ataxia and weight loss, preceded by recent initiation of haemodialysis for end\u2010stage chronic kidney disease.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Extensive work\u2010up including serological, cerebrospinal fluid, magnetic resonance imaging and electroencephalography was performed. Whole exome sequencing and muscle biopsy confirmed the diagnosis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Magnetic resonance imaging brain demonstrated a single non\u2010enhancing T2 fluid attenuated inversion recovery hyperintense cortical\/subcortical signal change in the right temporal lobe and cerebellar atrophy. Given the subacute presentation of uncertain aetiology, he was empirically treated for autoimmune\/paraneoplastic encephalitis. Despite radiological resolution of the cortical abnormality 2\u2009weeks later, there was no clinical improvement. Further collateral history unveiled a mildly ataxic gait and longstanding hearing loss suggestive of a genetic cause. Whole exome sequencing revealed a likely pathogenic, heteroplasmic mitochondrial DNA variant in the <jats:italic>MT\u2010TV<\/jats:italic> gene, m.1659T&gt;C, present at higher levels of heteroplasmy in muscle (91%) compared to other mitotic tissues. A high fat\/protein diet and multivitamins including co\u2010enzyme Q10 were commenced. Treatment of the nutritional deficiency and avoidance of intermittent fasting due to unreliable oral intake secondary to encephalopathy probably contributed to the clinical improvement seen over the ensuing few months, with resolution of his encephalopathy and return to his baseline gait and weight.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>An adult case is reported with an acute neurological presentation mimicking encephalitis, caused by a heteroplasmic m.1659T&gt;C <jats:italic>MT\u2010TV<\/jats:italic> variant, previously reported once in a child who displayed a different clinical phenotype.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.16405","type":"journal-article","created":{"date-parts":[[2024,7,8]],"date-time":"2024-07-08T08:43:34Z","timestamp":1720428214000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Adult presentation of a rare mitochondrial <scp>tRNA<\/scp> Val gene mutation\u2014an expanding clinical phenotype"],"prefix":"10.1111","volume":"31","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9562-1392","authenticated-orcid":false,"given":"Eimear","family":"Joyce","sequence":"first","affiliation":[{"name":"Department of Neurology Beaumont Hospital  Dublin Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohib","family":"Ali","sequence":"additional","affiliation":[{"name":"Department of Neurology Beaumont Hospital  Dublin Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Georgia","family":"Richard","sequence":"additional","affiliation":[{"name":"Department of Neurology Beaumont Hospital  Dublin Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Siobhan","family":"Kelly","sequence":"additional","affiliation":[{"name":"Department of Neurology Sligo University Hospital  Silgo Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fiachra","family":"Martin","sequence":"additional","affiliation":[{"name":"Department of Plastic Surgery Beaumont Hospital  Dublin Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter J.","family":"Conlon","sequence":"additional","affiliation":[{"name":"Department of Nephrology and Transplantation Beaumont Hospital  Dublin Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Whelehan","sequence":"additional","affiliation":[{"name":"Department of Neurophysiology Beaumont Hospital  Dublin Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi Shiau","family":"Ng","sequence":"additional","affiliation":[{"name":"Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute Newcastle University  Newcastle upon Tyne UK"},{"name":"NHS Highly Specialised Service for Rare Mitochondrial Disorders Newcastle upon Tyne Hospitals NHS Foundation Trust  Newcastle upon Tyne UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6555-6462","authenticated-orcid":false,"given":"Stela","family":"Lefter","sequence":"additional","affiliation":[{"name":"Department of Neurology Beaumont Hospital  Dublin Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,7,8]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000597"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2004.07.007"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11940-009-0046-0"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.12688\/wellcomeopenres.15599.1"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awab353"}],"container-title":["European Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ene.16405","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,9,21]],"date-time":"2024-09-21T06:14:50Z","timestamp":1726899290000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ene.16405"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7,8]]},"references-count":5,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2024,10]]}},"alternative-id":["10.1111\/ene.16405"],"URL":"https:\/\/doi.org\/10.1111\/ene.16405","archive":["Portico"],"relation":{},"ISSN":["1351-5101","1468-1331"],"issn-type":[{"type":"print","value":"1351-5101"},{"type":"electronic","value":"1468-1331"}],"subject":[],"published":{"date-parts":[[2024,7,8]]},"assertion":[{"value":"2024-05-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication 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