{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,3]],"date-time":"2026-04-03T02:22:55Z","timestamp":1775182975639,"version":"3.50.1"},"reference-count":6,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2023,7,19]],"date-time":"2023-07-19T00:00:00Z","timestamp":1689724800000},"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":[[2023,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background and purpose<\/jats:title><jats:p>Defects in the mitochondrial respiratory chain (MRC) can lead to combined MRC dysfunctions (COXPDs) with heterogenous genotypes and clinical features. We report a patient carrying heterozygous variants in the <jats:italic>TUFM<\/jats:italic> gene who presented with clinical features compatible with COXPD4 and radiological findings mimicking multiple sclerosis (MS).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A 37\u2010year\u2010old French Canadian woman was investigated for recent onset of gait and balance problems. Her previous medical history included recurrent episodes of hyperventilation associated with lactic acidosis during infections, asymptomatic Wolff\u2013Parkinson\u2013White syndrome, and nonprogressive sensorineural deafness.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Neurological examinations revealed fine bilateral nystagmus, facial weakness, hypertonia, hyperreflexia, dysdiadochokinesia, dysmetria, and ataxic gait. Brain magnetic resonance imaging (MRI) showed multifocal white matter abnormalities in cerebral white matter as well as cerebellar hemispheres, brainstem, and middle cerebellar peduncles, some of which mimicked MS. Analysis of native\u2010state oxidative phosphorylation showed a combined decrease in CI\/CII, CIV\/CII, and CVI\/CII. Exome sequencing detected two heterozygous <jats:italic>TUFM<\/jats:italic> gene variants. Little clinical progression was noted over a 5\u2010year follow\u2010up. Brain MRI remained unchanged.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our report broadens the phenotypic and radiological spectrum of <jats:italic>TUFM<\/jats:italic>\u2010related disorders by adding milder, later onset forms to the previously known early onset, severe presentations. The presence of multifocal white matter abnormalities can be misinterpreted as due to acquired demyelinating diseases, and thus <jats:italic>TUFM<\/jats:italic>\u2010related disorders should be added to the list of mitochondrial MS mimickers.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.15982","type":"journal-article","created":{"date-parts":[[2023,7,12]],"date-time":"2023-07-12T00:24:35Z","timestamp":1689121475000},"page":"3400-3403","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["<i>TUFM<\/i> variants lead to white matter abnormalities mimicking multiple sclerosis"],"prefix":"10.1111","volume":"30","author":[{"given":"Shihan","family":"Chen","sequence":"first","affiliation":[{"name":"Department of Neurology and Neurosurgery Montreal Neurological Institute, McGill University  Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Grant A.","family":"Mitchell","sequence":"additional","affiliation":[{"name":"Medical Genetics Division, Department of Pediatrics CHU Sainte\u2010Justine, University of Montreal  Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean\u2010Francois","family":"Soucy","sequence":"additional","affiliation":[{"name":"Medical Genetics Division, Department of Pediatrics CHU Sainte\u2010Justine, University of Montreal  Montreal Quebec Canada"},{"name":"Department of Clinical Laboratory Medicine OPTILAB Montreal CHU Sainte\u2010Justine  Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julie","family":"Gauthier","sequence":"additional","affiliation":[{"name":"Medical Genetics Division, Department of Pediatrics CHU Sainte\u2010Justine, University of Montreal  Montreal Quebec Canada"},{"name":"Molecular Diagnostic Laboratory CHU Sainte\u2010Justine  Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bernard","family":"Brais","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery Montreal Neurological Institute, McGill University  Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4207-5065","authenticated-orcid":false,"given":"Roberta","family":"La\u00a0Piana","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery Montreal Neurological Institute, McGill University  Montreal Quebec Canada"},{"name":"Department of Diagnostic Radiology McGill University  Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,7,19]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awu397"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1005679"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/510559"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(17)30470-2"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2017.01.022"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awp046"}],"container-title":["European Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ene.15982","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,7]],"date-time":"2023-09-07T09:46:17Z","timestamp":1694079977000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ene.15982"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7,19]]},"references-count":6,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2023,10]]}},"alternative-id":["10.1111\/ene.15982"],"URL":"https:\/\/doi.org\/10.1111\/ene.15982","archive":["Portico"],"relation":{},"ISSN":["1351-5101","1468-1331"],"issn-type":[{"value":"1351-5101","type":"print"},{"value":"1468-1331","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,7,19]]},"assertion":[{"value":"2023-01-02","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-07-06","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-07-19","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}