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With only two families reported, the clinical and molecular spectrum of NADH-ubiquinone oxidoreductase 1 alpha subcomplex 13\u2013related diseases remains unclear. We report 10 additional affected individuals from nine independent families, identifying four missense variants (including recurrent c.170G &amp;gt; A) and three ultra-rare or novel predicted loss-of-function biallelic variants. Updated clinical\u2013radiological data from previously reported families and a literature review compiling clinical features of all reported patients with isolated complex I deficiency caused by 43 genes encoding complex I subunits and assembly factors are also provided. Our cohort (mean age 7.8 \u00b1 5.4 years; range 2.5\u201318) predominantly presented a moderate-to-severe neurodevelopmental syndrome with oculomotor abnormalities (84%), spasticity\/hypertonia (83%), hypotonia (69%), cerebellar ataxia (66%), movement disorders (58%) and epilepsy (46%). Neuroimaging revealed bilateral symmetric T2 hyperintense substantia nigra lesions (91.6%) and optic nerve atrophy (66.6%). Protein modeling suggests missense variants destabilize a critical junction between the hydrophilic and membrane arms of complex I. Fibroblasts from two patients showed reduced complex I activity and compensatory complex IV activity increase. This study characterizes NADH-ubiquinone oxidoreductase 1 alpha subcomplex 13\u2013related disease in 13 individuals, highlighting genotype\u2013phenotype correlations.<\/jats:p>","DOI":"10.1093\/braincomms\/fcae453","type":"journal-article","created":{"date-parts":[[2024,12,17]],"date-time":"2024-12-17T18:32:02Z","timestamp":1734460322000},"source":"Crossref","is-referenced-by-count":6,"title":["Biallelic <i>NDUFA13<\/i> variants lead to a neurodevelopmental phenotype with gradual neurological impairment"],"prefix":"10.1093","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1640-4010","authenticated-orcid":false,"given":"Rauan","family":"Kaiyrzhanov","sequence":"first","affiliation":[{"name":"Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London , London WC1N 3BG ,","place":["UK"]},{"name":"Department of Neurology, South Kazakhstan Medical Academy , Shymkent 160019 ,","place":["Kazakhstan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyle","family":"Thompson","sequence":"additional","affiliation":[{"name":"Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University , Newcastle upon Tyne NE2 4HH ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4900-9877","authenticated-orcid":false,"given":"Stephanie","family":"Efthymiou","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London , London WC1N 3BG ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8588-4268","authenticated-orcid":false,"given":"Askhat","family":"Mukushev","sequence":"additional","affiliation":[{"name":"Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School , Boston, MA 02215-5400 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akbota","family":"Zharylkassyn","sequence":"additional","affiliation":[{"name":"The Institute of Childhood Neurology , Almaty 050000 ,","place":["Kazakhstan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chitra","family":"Prasad","sequence":"additional","affiliation":[{"name":"Division of Genetics and Metabolics, Department of Pediatrics, London Health Sciences , London, ON, Canada N6A 5W9"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ehsan","family":"Ghayoor Karimiani","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London , London WC1N 3BG ,","place":["UK"]},{"name":"Molecular and Clinical Sciences Institute, St. George\u2019s University of London , London SW17 0RE 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Bojnurd 9413813965 ,","place":["Iran"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Homa","family":"Tajsharghi","sequence":"additional","affiliation":[{"name":"School of Health Sciences, Division of Biomedicine, University of Skovde , Skovde 541 28 ,","place":["Sweden"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Buthaina","family":"Albash","sequence":"additional","affiliation":[{"name":"Kuwait Medical Genetics Centre, Al-Sabah Medical Area , Kuwait City 80901 ,","place":["Kuwait"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmad","family":"Alaqeel","sequence":"additional","affiliation":[{"name":"Kuwait Medical Genetics Centre, Al-Sabah Medical Area , Kuwait City 80901 ,","place":["Kuwait"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Majida","family":"Charif","sequence":"additional","affiliation":[{"name":"Genetics Unit, Medical Sciences Research Laboratory, Faculty of Medicine and Pharmacy, University 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M","family":"Srinivasan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Indira Gandhi Institute of Child Health , Bangalore 560 029 ,","place":["India"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7244-0492","authenticated-orcid":false,"given":"Vykuntaraju K","family":"Gowda","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Indira Gandhi Institute of Child Health , Bangalore 560 029 ,","place":["India"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seyed Hamidreza","family":"Mirabutalebi","sequence":"additional","affiliation":[{"name":"Abortion Research Centre, Yazd Reproductive Sciences Institute, Shahid Sadoughi University of Medical Sciences , Yazd 8916188635 ,","place":["Iran"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deanna Alexis","family":"Carere","sequence":"additional","affiliation":[{"name":"GeneDx Inc. , 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Canada N6A 5W9"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agathe","family":"Roubertie","sequence":"additional","affiliation":[{"name":"Department of Neuropaediatrics, Gui de Chauliac Hospital, Montpellier University Hospital, Institut des Neurosciences, INSERM U 1298 , Montpellier 34091 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tony","family":"Rupar","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Western Ontario , London, ON, Canada N6A5W9"},{"name":"Departments of Biochemistry, Pathology and Laboratory Medicine, University of Western Ontario , London, ON, Canada N6A5W9"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tipu","family":"Sultan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Children's Hospital and Institute of Child Health , Lahore 54000 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