{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T16:12:35Z","timestamp":1784563955159,"version":"3.55.0"},"reference-count":5,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2025,9,14]],"date-time":"2025-09-14T00:00:00Z","timestamp":1757808000000},"content-version":"vor","delay-in-days":13,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Peripheral Nervous Sys"],"published-print":{"date-parts":[[2025,9]]},"abstract":"ABSTRACT<\/jats:title>Background and Aims<\/jats:title>TTC19 encodes a mitochondrial protein involved in the assembly of complex III of the respiratory chain. Biallelic pathogenic variants cause a rare mitochondrial disorder typically associated with cerebellar ataxia, neuropsychiatric symptoms, and characteristic brain MRI findings within the Leigh syndrome spectrum. Peripheral motor involvement has been described in a minority of cases but has rarely been documented with detailed neurophysiological data. We report a novel TTC19 variant in a patient presenting with a distinctive combination of central and peripheral motor involvement.<\/jats:p><\/jats:sec>Case Report<\/jats:title>A male patient of Malian origin presented with cerebellar ataxia and attention deficits from early childhood. During adolescence, he developed additional features including dysarthria, dysphagia, dysexecutive syndrome, and signs of peripheral motor neuropathy. Brain MRI revealed T2\u2010FLAIR hyperintensities in the basal ganglia and brainstem. Genetic testing identified a novel homozygous nonsense variant in TTC19 (c.235G>T, p.(Gly79*)). At age 19, he experienced two acute deteriorations associated with respiratory infections, leading to severe tetraparesis and diaphragmatic weakness. Neurophysiological studies confirmed a diffuse, axonal, pure distal motor neuropathy. Follow\u2010up imaging showed progression and cavitation of brainstem lesions. The patient died from respiratory failure at age 20.<\/jats:p><\/jats:sec>Interpretation<\/jats:title>This case, featuring a novel TTC19 variant and detailed electrophysiological data, further supports the presence of pure motor neuropathy within the phenotypic spectrum of TTC19\u2010related disease. The co\u2010occurrence of Leigh syndrome MRI findings and motor neuropathy represents a specific diagnostic clue that may help prioritize genetic testing in patients with overlapping central and peripheral motor involvement.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jns.70060","type":"journal-article","created":{"date-parts":[[2025,9,14]],"date-time":"2025-09-14T22:39:03Z","timestamp":1757889543000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Motor Neuropathy in a Patient With Mitochondrial Disease and a Novel TTC19<\/scp> Variant: An Underrecognized Phenotypic Feature"],"prefix":"10.1111","volume":"30","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4069-0483","authenticated-orcid":false,"given":"Daniele","family":"Mandia","sequence":"first","affiliation":[{"name":"AP\u2010HP, Piti\u00e9\u2010Salp\u00eatri\u00e8re Hospital, Reference Center for Metabolic and Lysosomal Neurological Diseases Neurology Department Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charline","family":"Benoit","sequence":"additional","affiliation":[{"name":"D\u00e9partement de Neurophysiologie Clinique H\u00f4pital de la Piti\u00e9\u2010Salp\u00eatri\u00e8re, APHP Paris VI Universit\u00e9 Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanya","family":"Stojkovic","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence des Maladies Neuromusculaires Nord\/Est\/Ile de France, AP\u2010HP Sorbonne Universit\u00e9, H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yann","family":"Nadjar","sequence":"additional","affiliation":[{"name":"AP\u2010HP, Piti\u00e9\u2010Salp\u00eatri\u00e8re Hospital, Reference Center for Metabolic and Lysosomal Neurological Diseases Neurology Department Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,9,14]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.761"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.26716"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/cns.14425"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3182698d8d"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awac453"}],"container-title":["Journal of the Peripheral Nervous System"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jns.70060","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T15:49:43Z","timestamp":1758815383000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/jns.70060"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9]]},"references-count":5,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2025,9]]}},"alternative-id":["10.1111\/jns.70060"],"URL":"https:\/\/doi.org\/10.1111\/jns.70060","archive":["Portico"],"relation":{},"ISSN":["1085-9489","1529-8027"],"issn-type":[{"value":"1085-9489","type":"print"},{"value":"1529-8027","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,9]]},"assertion":[{"value":"2025-05-26","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-09-09","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-09-14","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70060"}}