{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T23:28:27Z","timestamp":1793748507946,"version":"4.6.1"},"reference-count":46,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T00:00:00Z","timestamp":1759708800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100005189","name":"Estonian Research Competency Council","doi-asserted-by":"publisher","award":["PRG2040"],"award-info":[{"award-number":["PRG2040"]}],"id":[{"id":"10.13039\/501100005189","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100024583","name":"Medizinische Fakult\u00e4t, Universit\u00e4t zu K\u00f6ln","doi-asserted-by":"publisher","award":["371\/2021"],"award-info":[{"award-number":["371\/2021"]}],"id":[{"id":"10.13039\/501100024583","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100024583","name":"Medizinische Fakult\u00e4t, Universit\u00e4t zu K\u00f6ln","doi-asserted-by":"publisher","award":["243\/2022"],"award-info":[{"award-number":["243\/2022"]}],"id":[{"id":"10.13039\/501100024583","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["413543196"],"award-info":[{"award-number":["413543196"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001826","name":"ZonMw","doi-asserted-by":"publisher","award":["09150172110002"],"award-info":[{"award-number":["09150172110002"]}],"id":[{"id":"10.13039\/501100001826","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100018693","name":"HORIZON EUROPE Framework Programme","doi-asserted-by":"publisher","award":["ERN\u201001\u20102016\/739516"],"award-info":[{"award-number":["ERN\u201001\u20102016\/739516"]}],"id":[{"id":"10.13039\/100018693","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000317","name":"Action Medical Research","doi-asserted-by":"publisher","award":["GN2959"],"award-info":[{"award-number":["GN2959"]}],"id":[{"id":"10.13039\/501100000317","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2025,11]]},"abstract":"\n Objective<\/jats:title>\n \n Autophagy is a fundamental biological pathway with vital roles in intracellular homeostasis. During autophagy, defective cargoes including mitochondria are targeted to lysosomes for clearance and recycling. Recessive truncating variants in the autophagy gene\n EPG5<\/jats:italic>\n have been associated with Vici syndrome, a severe early\u2010onset neurodevelopmental disorder with extensive multisystem involvement. Here, we aimed to delineate the extended, age\u2010dependent\n EPG5<\/jats:italic>\n \u2010related disease spectrum.\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n We investigated clinical, radiological, and molecular features from the largest cohort of\n EPG5<\/jats:italic>\n \u2010related patients identified to date, complemented by experimental investigation of cellular and animal models of EPG5 defects.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n Through worldwide collaboration, we identified 211 patients, 97 of them previously unpublished, with recessive\n EPG5<\/jats:italic>\n variants. The phenotypic spectrum ranged from antenatally lethal presentations to milder isolated neurodevelopmental disorders. A novel Epg5 knock\u2010in mouse model of a recurrent\n EPG5<\/jats:italic>\n missense variant featured motor impairments and defective autophagy in brain areas particularly relevant for the neurological disorders in milder presentations. Novel age\u2010dependent neurodegenerative manifestations in our cohort included adolescent\u2010onset parkinsonism and dystonia with cognitive decline, and myoclonus. Radiological features suggested an emerging continuum with brain iron accumulation disorders. Patient fibroblasts showed defects in PINK1\u2010Parkin\u2010dependent mitophagic clearance and \u03b1\u2010synuclein overexpression, indicating a cellular basis for the observed neurodegenerative phenotypes. In\n Caenorhabditis elegans<\/jats:italic>\n ,\n EPG5<\/jats:italic>\n knockdown caused motor impairments, defective mitophagic clearance, and changes in mitochondrial respiration comparable to observations in\n C.\u2009elegans<\/jats:italic>\n knockdown of parkinsonism\u2010related genes.\n <\/jats:p>\n <\/jats:sec>\n \n Interpretation<\/jats:title>\n \n Our findings illustrate a lifetime neurological disease continuum associated with pathogenic\n EPG5<\/jats:italic>\n variants, linking neurodevelopmental and neurodegenerative disorders through the common denominator of defective autophagy. ANN NEUROL 2025;98:932\u2013950\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/ana.78013","type":"journal-article","created":{"date-parts":[[2025,10,7]],"date-time":"2025-10-07T04:01:08Z","timestamp":1759809668000},"page":"932-950","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Mutations in the Key Autophagy Tethering Factor\n EPG5<\/scp>\n Link Neurodevelopmental and Neurodegenerative Disorders Including Early\u2010Onset Parkinsonism"],"prefix":"10.1002","volume":"98","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3483-5009","authenticated-orcid":false,"given":"Hormos Salimi","family":"Dafsari","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne University of Cologne Cologne Germany"},{"name":"Max Planck Institute for Biology of Aging and Cologne Excellence Cluster for Aging\u2010associated Diseases Cologne Germany"},{"name":"Department of Pediatric Neurology Evelina London Children's Hospital, Guy's & St Thomas NHS Foundation Trust London UK"},{"name":"Randall Center for Cell and Molecular Biophysics, Muscle Signaling Section, Faculty of Life Sciences and Medicine (FoLSM) King's College London London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Celine","family":"Deneubourg","sequence":"additional","affiliation":[{"name":"Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology & Neuroscience King's College London London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4072-6888","authenticated-orcid":false,"given":"Kritarth","family":"Singh","sequence":"additional","affiliation":[{"name":"UCL Consortium for Mitochondrial Research and Department of Cell and Developmental Biology University College London London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6763-1542","authenticated-orcid":false,"given":"Reza","family":"Maroofian","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zita","family":"Suprenant","sequence":"additional","affiliation":[{"name":"Vici Syndrome Foundation, Inc Silver Spring Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ay Lin","family":"Kho","sequence":"additional","affiliation":[{"name":"Randall Center for Cell and Molecular Biophysics, Muscle Signaling Section, Faculty of Life Sciences and Medicine (FoLSM) King's College London London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neil J","family":"Ingham","sequence":"additional","affiliation":[{"name":"Wolfson Sensory Pain and Regeneration Centre, Institute of Psychiatry, Psychology & Neuroscience King's College London London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen P","family":"Steel","sequence":"additional","affiliation":[{"name":"Wolfson Sensory Pain and Regeneration Centre, Institute of Psychiatry, Psychology & Neuroscience King's College London London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Preethi","family":"Sheshadri","sequence":"additional","affiliation":[{"name":"UCL Consortium for Mitochondrial Research and Department of Cell and Developmental Biology University College London London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franciska","family":"Baur","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne University of Cologne Cologne Germany"},{"name":"Max Planck Institute for Biology of Aging and Cologne Excellence Cluster for Aging\u2010associated Diseases Cologne Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lea","family":"Hentrich","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne University of Cologne Cologne Germany"},{"name":"Max Planck Institute for Biology of Aging and Cologne Excellence Cluster for Aging\u2010associated Diseases Cologne Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Birgit","family":"Gerisch","sequence":"additional","affiliation":[{"name":"Max Planck Institute for Biology of Aging and Cologne Excellence Cluster for Aging\u2010associated Diseases Cologne Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mina","family":"Zamani","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology London UK"},{"name":"Narges Medical Genetics and Prenatal 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Medical Sciences Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony E.","family":"Lang","sequence":"additional","affiliation":[{"name":"Edmond J Safra Program in Parkinson's Disease, Krembil Brain Institute, University Health Network and the Department of Medicine University of Toronto Toronto ON Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Harris","sequence":"additional","affiliation":[{"name":"Vici Syndrome Foundation, Inc Silver Spring Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice","family":"Abdelaleem","sequence":"additional","affiliation":[{"name":"Department of Neurology Weill Cornell Medicine Qatar, Education City Doha Qatar"},{"name":"Medical Molecular Genetics Institute Human Genetics and Genome Research, National Research Centre Dokki 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UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saurabh","family":"Chopra","sequence":"additional","affiliation":[{"name":"Indraprastha Apollo Hospital New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suvasini","family":"Sharma","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolai","family":"Kohlschmidt","sequence":"additional","affiliation":[{"name":"Institute for Clinical Genetics and Tumour Genetics Bonn Germany"},{"name":"Laboratoire national de sant\u00e9, National Center of Genetics, Dudelange, Luxembourg"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steffi","family":"Patzer","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Krankenhaus St. Elisabeth und St. Barbara Halle (Saale) Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Afshin","family":"Saffari","sequence":"additional","affiliation":[{"name":"Division of Child Neurology and Metabolic Medicine, Department of Pediatrics I, Center for Pediatrics and Adolescent Medicine, Medical Faculty Heidelberg, University Hospital Heidelberg Heidelberg University Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0026-4714","authenticated-orcid":false,"given":"Darius","family":"Ebrahimi\u2010Fakhari","sequence":"additional","affiliation":[{"name":"Movement Disorders Program, Department of Neurology, Boston Children's Hospital Harvard Medical School Boston MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00fc\u015fra Eser","family":"\u00c7avdartepe","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Konya City Hospital Konya 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Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernice","family":"Lo","sequence":"additional","affiliation":[{"name":"Research Branch, Sidra Medicine, Doha; College of Health and Life Sciences Hamad Bin Khalifa University Doha Qatar"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luisa","family":"Averdunk","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty Heinrich\u2010Heine\u2010University D\u00fcsseldorf Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Felix","family":"Distelmaier","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty Heinrich\u2010Heine\u2010University D\u00fcsseldorf Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martina","family":"Baethmann","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hospital Dritter Orden Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frances","family":"Elmslie","sequence":"additional","affiliation":[{"name":"St George's University Hospitals NHS Foundation Trust London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kairit","family":"Joost","sequence":"additional","affiliation":[{"name":"Faculty of Medicine University of Tartu Tartu Estonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheela","family":"Nampoothiri","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics Amrita Institute of Medical Sciences & Research Center Cochin India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dhanya","family":"Yesodharan","sequence":"additional","affiliation":[{"name":"Department of Metabolic and Genetic Disorders Ziv, Medical Center Safed 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