{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,14]],"date-time":"2026-04-14T14:30:43Z","timestamp":1776177043090,"version":"3.50.1"},"reference-count":40,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2025,5,6]],"date-time":"2025-05-06T00:00:00Z","timestamp":1746489600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002341","name":"Academy of Finland","doi-asserted-by":"publisher","award":["331436"],"award-info":[{"award-number":["331436"]}],"id":[{"id":"10.13039\/501100002341","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002341","name":"Academy of Finland","doi-asserted-by":"publisher","award":["356676"],"award-info":[{"award-number":["356676"]}],"id":[{"id":"10.13039\/501100002341","id-type":"DOI","asserted-by":"publisher"}]},{"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\/501100006306","name":"Sigrid Jus\u00e9liuksen S\u00e4\u00e4ti\u00f6","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006306","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005744","name":"Lastentautien Tutkimuss\u00e4\u00e4ti\u00f6","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005744","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\/100016332","name":"Medical Research Center Oulu","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100016332","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2025,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The genetic landscape of pediatric cerebellar disorders (PCDs) in Finland is undefined.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objectives<\/jats:title><jats:p>The objective was to define epidemiological, clinical, neuroradiological, and genetic characteristics of PCDs in Northern Finland.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A longitudinal population\u2010based cohort study of children with a movement disorder or a cerebellar malformation (diagnosis \u226416\u2009years; study period 1970\u20132022) was performed in the tertiary catchment area of the Oulu University Hospital, Finland. The genotype\u2010to\u2010phenotype associations were compared with 1007 published cases with matching monogenic etiologies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A total of 107 patients were included (cumulative incidence 21.9 per 100,000 live births). A defined genetic or non\u2010genetic etiology was identified for 59 patients. These etiologies were monogenic (66%), chromosomal (12%), or non\u2010genetic (22%). Ataxia was the most common movement disorder. Friedreich's ataxia was uncommon, whereas ataxias belonging to the Finnish Disease Heritage were overrepresented. Forty\u2010eight cases remained undefined. The diagnostic yield (ie, pathogenic or likely pathogenic variants) of next\u2010generation sequencing (NGS) in ataxia was 65%. Common features were ataxia, developmental delay, seizures, hypotonia, and abnormality in brain MRI, whereas hearing loss, sensory neuropathy, and microcephalia were associated with fewer etiologies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>PCDs are a heterogeneous disease group with a high proportion of genetic etiologies. Age of onset and certain clinical findings may help distinguish between different disease entities. The diagnostic yield of NGS has increased over time. Our dataset will support clinicians to recognize PCDs, their co\u2010morbidities, and genetic etiologies. Further data on epidemiology, shared disease mechanisms, and the natural history of PCDs will be critical for the development of treatment approaches. \u00a9 2025 The Author(s). <jats:italic>Movement Disorders<\/jats:italic> published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mds.30210","type":"journal-article","created":{"date-parts":[[2025,5,6]],"date-time":"2025-05-06T07:51:36Z","timestamp":1746517896000},"page":"1851-1862","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebellar Disorders"],"prefix":"10.1002","volume":"40","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-3167-6837","authenticated-orcid":false,"given":"Katariina","family":"Granath","sequence":"first","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine, Division of Paediatric Neurology Oulu University Hospital  Oulu Finland"},{"name":"Research Unit of Clinical Medicine, University of Oulu and Medical Research Center Oulu, Oulu University Hospital and University of Oulu  Oulu Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0292-2581","authenticated-orcid":false,"given":"Sanna","family":"Huhtaniska","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Radiology, Physics and Technology, Research Unit of Health Sciences and Technology, and Medical Research Center Oulu Oulu University Hospital and University of Oulu  Oulu Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juulia","family":"Ellonen","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine, Division of Paediatric Neurology Oulu University Hospital  Oulu Finland"},{"name":"Research Unit of Clinical Medicine, University of Oulu and Medical Research Center Oulu, Oulu University Hospital and University of Oulu  Oulu Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5488-5885","authenticated-orcid":false,"given":"Tytti","family":"Pokka","sequence":"additional","affiliation":[{"name":"Research Unit of Clinical Medicine, University of Oulu and Medical Research Center Oulu, Oulu University Hospital and University of Oulu  Oulu Finland"},{"name":"Research Service Unit, Research Unit of Clinical Medicine Oulu University Hospital  Oulu Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3644-5832","authenticated-orcid":false,"given":"Salla M.","family":"Kangas","sequence":"additional","affiliation":[{"name":"Research Unit of Clinical Medicine, University of Oulu and Medical Research Center Oulu, Oulu University Hospital and University of Oulu  Oulu Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8041-3205","authenticated-orcid":false,"given":"Jukka","family":"Moilanen","sequence":"additional","affiliation":[{"name":"Research Unit of Clinical Medicine, University of Oulu and Medical Research Center Oulu, Oulu University Hospital and University of Oulu  Oulu Finland"},{"name":"Department of Clinical Genetics Oulu University Hospital, Oulu University Hospital  Oulu Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7319-3531","authenticated-orcid":false,"given":"Heli","family":"Helander","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine, Division of Paediatric Neurology Oulu University Hospital  Oulu Finland"},{"name":"Research Unit of Clinical Medicine, University of Oulu and Medical Research Center Oulu, Oulu University Hospital and University of Oulu  Oulu Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0738-7351","authenticated-orcid":false,"given":"Hanna","family":"Kallankari","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine, Division of Paediatric Neurology Oulu University Hospital  Oulu Finland"},{"name":"Research Unit of Clinical Medicine, University of Oulu and Medical Research Center Oulu, Oulu University Hospital and University of Oulu  Oulu Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3876-9830","authenticated-orcid":false,"given":"Jonna","family":"Komulainen\u2010Ebrahim","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine, Division of Paediatric Neurology Oulu University Hospital  Oulu Finland"},{"name":"Research Unit of Clinical Medicine, University of Oulu and Medical Research Center Oulu, Oulu University Hospital and University of Oulu  Oulu Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0796-8706","authenticated-orcid":false,"given":"P\u00e4ivi","family":"Vieira","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine, Division of Paediatric Neurology Oulu University Hospital  Oulu Finland"},{"name":"Research Unit of Clinical Medicine, University of Oulu and Medical Research Center Oulu, Oulu University Hospital and University of Oulu  Oulu Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2760-7059","authenticated-orcid":false,"given":"Elisa","family":"Rahikkala","sequence":"additional","affiliation":[{"name":"Research Unit of Clinical Medicine, University of Oulu and Medical Research Center Oulu, Oulu University Hospital and University of Oulu  Oulu Finland"},{"name":"Department of Clinical Genetics Oulu University Hospital, Oulu University Hospital  Oulu Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7272-7079","authenticated-orcid":false,"given":"Renzo","family":"Guerrini","sequence":"additional","affiliation":[{"name":"Neuroscience Department Meyer Children's Hospital IRCCS and University of Florence  Florence Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8288-9442","authenticated-orcid":false,"given":"Minna","family":"Honkila","sequence":"additional","affiliation":[{"name":"Research Unit of Clinical Medicine, University of Oulu and Medical Research Center Oulu, Oulu University Hospital and University of Oulu  Oulu Finland"},{"name":"Department of Paediatrics and Adolescent Medicine Oulu University Hospital  Oulu Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5433-4207","authenticated-orcid":false,"given":"Terhi S.","family":"Ruuska","sequence":"additional","affiliation":[{"name":"Research Unit of Clinical Medicine, University of Oulu and Medical Research Center Oulu, Oulu University Hospital and University of Oulu  Oulu Finland"},{"name":"Department of Paediatrics and Adolescent Medicine Oulu University Hospital  Oulu Finland"},{"name":"Biocenter Oulu, University of Oulu  Oulu Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7642-4008","authenticated-orcid":false,"given":"Reetta","family":"Hinttala","sequence":"additional","affiliation":[{"name":"Research Unit of Clinical Medicine, University of Oulu and Medical Research Center Oulu, Oulu University Hospital and University of Oulu  Oulu Finland"},{"name":"Biocenter Oulu, University of Oulu  Oulu Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5500-7168","authenticated-orcid":false,"given":"Maria","family":"Suo\u2010Palosaari","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Radiology, Physics and Technology, Research Unit of Health Sciences and Technology, and Medical Research Center Oulu Oulu University Hospital and University of Oulu  Oulu Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7350-386X","authenticated-orcid":false,"given":"Jussi\u2010Pekka","family":"Tolonen","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine, Division of Paediatric Neurology Oulu University Hospital  Oulu Finland"},{"name":"Research Unit of Clinical Medicine, University of Oulu and Medical Research Center Oulu, Oulu University Hospital and University of Oulu  Oulu Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6794-209X","authenticated-orcid":false,"given":"Johanna","family":"Uusimaa","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine, Division of Paediatric Neurology Oulu University Hospital  Oulu Finland"},{"name":"Research Unit of Clinical Medicine, University of Oulu and Medical Research Center Oulu, Oulu University Hospital and University of Oulu  Oulu Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,5,6]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/CON.0000000000001187"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/CON.0000000000000367"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/jon.13017"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000438224.25600.6c"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.29397"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-023-01629-y"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awt236"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000444"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1242\/dmm.049490"},{"key":"e_1_2_8_11_1","unstructured":"Statistics Finland. Helsinki: Statistics Finland. 2023 [cited 2023 Feb 24]. Population Structure; Available from:https:\/\/stat.fi\/en\/statistics\/vaerak."},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gks539"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gky1016"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.4161\/rdis.25212"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-018-08262-y"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000183"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2016-10-743302"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.29651"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200320"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-017-0885-2"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2023.05.009"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000265"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/mdc3.12399"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-pathmechdis-051122-110756"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12264-023-01157-z"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.26712"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1152\/jn.00720.2020"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13041-019-0477-9"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2022.10.009"},{"key":"e_1_2_8_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2023.105405"},{"key":"e_1_2_8_32_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-021-10897-9"},{"key":"e_1_2_8_33_1","doi-asserted-by":"publisher","DOI":"10.3390\/brainsci12020182"},{"key":"e_1_2_8_34_1","article-title":"Treatable cerebellar ataxias","author":"Divya KP","year":"2020","journal-title":"Clin Park Relat Disord"},{"key":"e_1_2_8_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurot.2023.10.006"},{"key":"e_1_2_8_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2023.05.009"},{"key":"e_1_2_8_37_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.27568"},{"key":"e_1_2_8_38_1","doi-asserted-by":"publisher","DOI":"10.1089\/nat.2021.0039"},{"key":"e_1_2_8_39_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(23)00068-6"},{"key":"e_1_2_8_40_1","doi-asserted-by":"publisher","DOI":"10.1097\/RMR.0000000000000175"},{"key":"e_1_2_8_41_1","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A7659"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.30210","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T11:34:33Z","timestamp":1759318473000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.30210"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,5,6]]},"references-count":40,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2025,9]]}},"alternative-id":["10.1002\/mds.30210"],"URL":"https:\/\/doi.org\/10.1002\/mds.30210","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"value":"0885-3185","type":"print"},{"value":"1531-8257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,5,6]]},"assertion":[{"value":"2024-11-27","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-04-08","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-05-06","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}