{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,7]],"date-time":"2026-09-07T03:21:44Z","timestamp":1788751304449,"version":"build-2803163510"},"reference-count":18,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,3,12]],"date-time":"2024-03-12T00:00:00Z","timestamp":1710201600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100008440","name":"International Parkinson and Movement Disorder Society","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008440","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":[[2024,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Biallelic pathogenic variants in the <jats:italic>ANO10<\/jats:italic> gene cause autosomal recessive progressive ataxia (ATX\u2010<jats:italic>ANO10<\/jats:italic>).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Following the MDSGene protocol, we systematically investigated genotype\u2013phenotype relationships in ATX\u2010<jats:italic>ANO10<\/jats:italic> based on the clinical and genetic data from 82 published and 12 newly identified patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Most patients (&gt;80%) had loss\u2010of\u2010function (LOF) variants. The most common variant was c.1150_1151del, found in all 29 patients of Romani ancestry, who had a 14\u2010year earlier mean age at onset than patients homozygous for other LOF variants. We identified previously undescribed clinical features of ATX\u2010<jats:italic>ANO10<\/jats:italic> (e.g., facial muscle involvement and strabismus) suggesting the involvement of brainstem pathology, and we propose a diagnostic algorithm that may aid clinical ATX\u2010<jats:italic>ANO10<\/jats:italic> diagnosis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The early disease onset in patients with c.1150_1151del may indicate the existence of genetic\/environmental disease\u2010modifying factors in the Romani population. Our findings will inform patient counseling and may improve our understanding of the disease mechanism. \u00a9 2024 The Authors. <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.29729","type":"journal-article","created":{"date-parts":[[2024,3,12]],"date-time":"2024-03-12T06:36:50Z","timestamp":1710225410000},"page":"887-892","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["<scp><i>ANO10<\/i><\/scp>\u2010Related Spinocerebellar Ataxia: <scp>MDSGene<\/scp> Systematic Literature Review and a Romani Case Series"],"prefix":"10.1002","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-5974-5265","authenticated-orcid":false,"given":"Andona","family":"Milovanovi\u0107","sequence":"first","affiliation":[{"name":"Clinic for Neurology University Clinical Center of Serbia  Belgrade Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8062-6959","authenticated-orcid":false,"given":"Ana","family":"Westenberger","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics University of L\u00fcbeck  L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1484-4717","authenticated-orcid":false,"given":"Iva","family":"Stankovi\u0107","sequence":"additional","affiliation":[{"name":"Clinic for Neurology University Clinical Center of Serbia  Belgrade Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivera","family":"Tama\u0161","sequence":"additional","affiliation":[{"name":"Clinic for Neurology University Clinical Center of Serbia  Belgrade Serbia"},{"name":"School of Medicine University of Belgrade  Belgrade Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marija","family":"Brankovi\u0107","sequence":"additional","affiliation":[{"name":"Clinic for Neurology University Clinical Center of Serbia  Belgrade Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Marjanovi\u0107","sequence":"additional","affiliation":[{"name":"Clinic for Neurology University Clinical Center of Serbia  Belgrade Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bj\u00f6rn\u2010Hergen","family":"Laabs","sequence":"additional","affiliation":[{"name":"Institute of Medical Biometry and Statistics, University of L\u00fcbeck University Medical Center Schleswig\u2010Holstein  L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Max","family":"Brand","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics University of L\u00fcbeck  L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rajasumi","family":"Rajalingam","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Neurology Edmond J. Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital  Toronto Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Connie","family":"Marras","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Neurology Edmond J. Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital  Toronto Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katja","family":"Lohmann","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics University of L\u00fcbeck  L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vesna","family":"Brankovi\u0107","sequence":"additional","affiliation":[{"name":"Clinic for Neurology University Clinical Center of Serbia  Belgrade Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivana","family":"Novakovi\u0107","sequence":"additional","affiliation":[{"name":"School of Medicine University of Belgrade  Belgrade Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Igor","family":"Petrovi\u0107","sequence":"additional","affiliation":[{"name":"Clinic for Neurology University Clinical Center of Serbia  Belgrade Serbia"},{"name":"School of Medicine University of Belgrade  Belgrade Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Svetel","sequence":"additional","affiliation":[{"name":"Clinic for Neurology University Clinical Center of Serbia  Belgrade Serbia"},{"name":"School of Medicine University of Belgrade  Belgrade Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Klein","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics University of L\u00fcbeck  L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vladimir S.","family":"Kosti\u0107","sequence":"additional","affiliation":[{"name":"Clinic for Neurology University Clinical Center of Serbia  Belgrade Serbia"},{"name":"School of Medicine University of Belgrade  Belgrade Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natasa","family":"Draga\u0161evi\u0107\u2010Mi\u0161kovi\u0107","sequence":"additional","affiliation":[{"name":"Clinic for Neurology University Clinical Center of Serbia  Belgrade Serbia"},{"name":"School of Medicine University of Belgrade  Belgrade Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,3,12]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/MDS.28982"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.10.015"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2014.193"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-021-10763-8"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-018-9141-z"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.27352"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.26816"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/MDS.22857"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-011-6276-6"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-014-7476-7"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1080\/13554794.2019.1655064"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-018-0969-7"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/mdc3.12396"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/bcr-2021-245484"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1159\/000445109"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/121.4.561"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.66743"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.3389\/fnsys.2021.664223"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.29729","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T14:06:01Z","timestamp":1760969161000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.29729"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3,12]]},"references-count":18,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2024,5]]}},"alternative-id":["10.1002\/mds.29729"],"URL":"https:\/\/doi.org\/10.1002\/mds.29729","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"value":"0885-3185","type":"print"},{"value":"1531-8257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,3,12]]},"assertion":[{"value":"2023-09-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-01-11","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-03-12","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}