{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,6]],"date-time":"2026-07-06T16:58:43Z","timestamp":1783357123027,"version":"3.54.6"},"reference-count":30,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2021,5,5]],"date-time":"2021-05-05T00:00:00Z","timestamp":1620172800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100008723","name":"Suomen L\u00e4\u00e4ketieteen S\u00e4\u00e4ti\u00f6","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008723","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008488","name":"Stiftelsen Alma och K. A. Snellman S\u00e4\u00e4ti\u00f6","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008488","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002341","name":"Academy of Finland","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002341","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2021,9]]},"abstract":"<jats:sec><jats:title>Aim<\/jats:title><jats:p>To examine the epidemiological, clinical, and genetic characteristics of paediatric patients with genetic white matter disorders (GWMDs) in Northern Finland.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>A longitudinal population\u2010based cohort study was conducted in the tertiary catchment area of Oulu University Hospital from 1990 to 2019. Patients were identified retrospectively by International Statistical Classification of Diseases and Related Health Problems codes in hospital records and prospectively by attending physicians. Inclusion criteria were children younger than 18 years with defined GWMDs or genetic disorders associated with white matter abnormalities (WMAs) on brain magnetic resonance imaging.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Eighty patients (mean age [SD] at the end of the study 11y [8y 6mo], range 0\u201335y; 45 males, 35 females) were diagnosed with a defined GWMD. The cumulative childhood incidence was 30 per 100\u00a0000 live births. Regarding those patients with 49 distinct GWMDs, 20% had classic leukodystrophies and 80% had genetic leukoencephalopathies. The most common leukodystrophies were cerebral adrenoleukodystrophy, Krabbe disease, and Salla disease. Additionally, 29 patients (36%) had genetic aetiologies not previously associated with brain WMAs or they had recently characterised GWMDs, including <jats:italic>SAMD9L<\/jats:italic>\u2010 and <jats:italic>NHLRC2<\/jats:italic>\u2010related neurological disorders. Aetiology was mitochondrial in 21% of patients. The most common clinical findings were motor developmental delay, intellectual disability, hypotonia, and spasticity.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>The cumulative childhood incidence of childhood\u2010onset GWMDs was higher than previously described. Comprehensive epidemiological and natural history data are needed before future clinical trials are undertaken.<\/jats:p><\/jats:sec><jats:sec><jats:label\/><jats:p>\n<jats:boxed-text content-type=\"box\" position=\"anchor\"><jats:caption><jats:title>What this paper adds<\/jats:title><\/jats:caption><jats:p>\n<jats:list list-type=\"bullet\">\n\n<jats:list-item><jats:p>Forty\u2010nine distinct genetic white matter disorders (GWMDs) were identified, with 20% of cases being classic leukodystrophies.<\/jats:p><\/jats:list-item>\n\n<jats:list-item><jats:p>The cumulative childhood incidence of GWMDs was higher than described previously.<\/jats:p><\/jats:list-item>\n\n<jats:list-item><jats:p>A considerable proportion (36%) of GWMDs were previously undefined or recently characterised GWMDs.<\/jats:p><\/jats:list-item>\n\n<jats:list-item><jats:p>Mitochondrial aetiology was more common (21%) than previously reported.<\/jats:p><\/jats:list-item>\n<\/jats:list>\n<\/jats:p><\/jats:boxed-text>\n<\/jats:p><\/jats:sec>","DOI":"10.1111\/dmcn.14884","type":"journal-article","created":{"date-parts":[[2021,5,5]],"date-time":"2021-05-05T10:25:47Z","timestamp":1620210347000},"page":"1066-1074","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Epidemiological, clinical, and genetic characteristics of paediatric genetic white matter disorders in Northern Finland"],"prefix":"10.1111","volume":"63","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5552-0925","authenticated-orcid":false,"given":"Oula A","family":"Knuutinen","sequence":"first","affiliation":[{"name":"PEDEGO Research Unit University of Oulu Oulu Finland"},{"name":"Medical Research Center Oulu University of Oulu and Oulu University Hospital Oulu Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaakko H","family":"Oikarainen","sequence":"additional","affiliation":[{"name":"Medical Research Center Oulu University of Oulu and Oulu University Hospital Oulu Finland"},{"name":"Department of Diagnostic Radiology Oulu University Hospital Oulu Finland"},{"name":"Research Unit of Medical Imaging Physics and Technology University of Oulu Oulu Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria H","family":"Suo\u2010Palosaari","sequence":"additional","affiliation":[{"name":"Medical Research Center Oulu University of Oulu and Oulu University Hospital Oulu Finland"},{"name":"Department of Diagnostic Radiology Oulu University Hospital Oulu Finland"},{"name":"Research Unit of Medical Imaging Physics and Technology University of Oulu Oulu Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salla M","family":"Kangas","sequence":"additional","affiliation":[{"name":"PEDEGO Research Unit University of Oulu Oulu Finland"},{"name":"Medical Research Center Oulu University of Oulu and Oulu University Hospital Oulu Finland"},{"name":"Biocenter Oulu University of Oulu Oulu Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa J","family":"Rahikkala","sequence":"additional","affiliation":[{"name":"PEDEGO Research Unit University of Oulu Oulu Finland"},{"name":"Medical Research Center Oulu University of Oulu and Oulu University Hospital Oulu Finland"},{"name":"Department of Clinical Genetics Oulu University Hospital Oulu Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tytti M\u2010L","family":"Pokka","sequence":"additional","affiliation":[{"name":"PEDEGO Research Unit University of Oulu Oulu Finland"},{"name":"Clinic for Children and Adolescents Oulu University Hospital Oulu Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jukka S","family":"Moilanen","sequence":"additional","affiliation":[{"name":"PEDEGO Research Unit University of Oulu Oulu Finland"},{"name":"Medical 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