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Clinical presentations include epileptic syndromes, intellectual disability, and hereditary motor neuropathy.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>\n                      We investigated the role of\n                      <jats:italic>SPTAN1<\/jats:italic>\n                      variants in rare neurological disorders such as ataxia and spastic paraplegia.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We screened 10,000 NGS datasets across two international consortia and one local database, indicative of the level of international collaboration currently required to identify genes causative for rare disease. We performed in silico modeling of the identified\n                      <jats:italic>SPTAN1<\/jats:italic>\n                      variants.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We describe 22 patients from 14 families with five novel\n                      <jats:italic>SPTAN1<\/jats:italic>\n                      variants. Of six patients with cerebellar ataxia, four carry a de novo SPTAN1 variant and two show a sporadic inheritance. In this group, one variant (p.Lys2083del) is recurrent in four patients. Two patients have novel de novo missense mutations (p.Arg1098Cys, p.Arg1624Cys) associated with cerebellar ataxia, in one patient accompanied by intellectual disability and epilepsy. We furthermore report a recurrent missense mutation (p.Arg19Trp) in 15 patients with spastic paraplegia from seven families with a dominant inheritance pattern in four and a de novo origin in one case. One further patient carrying a de novo missense mutation (p.Gln2205Pro) has a complex spastic ataxic phenotype. Through protein modeling we show that mutated amino acids are located at crucial interlinking positions, interconnecting the three\u2010helix bundle of a spectrin repeat.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      We show that\n                      <jats:italic>SPTAN1<\/jats:italic>\n                      is a relevant candidate gene for ataxia and spastic paraplegia. We suggest that for the mutations identified in this study, disruption of the interlinking of spectrin helices could be a key feature of the pathomechanism. \u00a9 2022 International Parkinson and Movement Disorder Society\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mds.28959","type":"journal-article","created":{"date-parts":[[2022,2,12]],"date-time":"2022-02-12T12:52:56Z","timestamp":1644670376000},"page":"1175-1186","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":29,"title":["De Novo and Dominantly Inherited\n                    <scp>\n                      <i>SPTAN1<\/i>\n                    <\/scp>\n                    Mutations Cause Spastic Paraplegia and Cerebellar Ataxia"],"prefix":"10.1002","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2214-5908","authenticated-orcid":false,"given":"Liedewei","family":"Van de Vondel","sequence":"first","affiliation":[{"name":"Translational Neurosciences, Faculty of Medicine and Health Sciences University of Antwerp  Antwerp Belgium"},{"name":"Laboratory of Neuromuscular Pathology Institute Born\u2010Bunge, University of Antwerp  Antwerp Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan","family":"De Winter","sequence":"additional","affiliation":[{"name":"Translational Neurosciences, Faculty of Medicine and Health Sciences University of Antwerp  Antwerp Belgium"},{"name":"Laboratory of Neuromuscular Pathology Institute Born\u2010Bunge, University of Antwerp  Antwerp Belgium"},{"name":"Neuromuscular Reference Centre, Department of Neurology Antwerp University Hospital  Antwerp Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danique","family":"Beijer","sequence":"additional","affiliation":[{"name":"Translational Neurosciences, Faculty of Medicine and Health Sciences University of Antwerp  Antwerp Belgium"},{"name":"Laboratory of Neuromuscular Pathology Institute Born\u2010Bunge, University of Antwerp  Antwerp Belgium"},{"name":"Dr John T. Macdonald Foundation Department of Human Genetics John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine  Miami FL USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia","family":"Coarelli","sequence":"additional","affiliation":[{"name":"Sorbonne University, ICM\u2010Paris Brain Institute, INSERM, CNRS, APHP, Piti\u00e9 Salp\u00eatri\u00e8re Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melanie","family":"Wayand","sequence":"additional","affiliation":[{"name":"Department of Neurodegenerative Diseases Hertie Institute for Clinical Brain Research (HIH), Center of Neurology, University of T\u00fcbingen  T\u00fcbingen Germany"},{"name":"German Center for Neurodegenerative Diseases (DZNE) University of T\u00fcbingen  T\u00fcbingen 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University of Antwerp  Antwerp Belgium"},{"name":"Neuromuscular Reference Centre, Department of Neurology Antwerp University Hospital  Antwerp Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Klopstock","sequence":"additional","affiliation":[{"name":"Department of Neurology Friedrich\u2010Baur\u2010Institute, LMU Munich  Munich Germany"},{"name":"German Center for Neurodegenerative Diseases (DZNE)  Munich Germany"},{"name":"Munich Cluster for Systems Neurology (SyNergy)  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5121-1460","authenticated-orcid":false,"given":"Katja","family":"Lohmann","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics University of L\u00fcbeck  L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ginevra","family":"Zanni","sequence":"additional","affiliation":[{"name":"Unit of Neuromuscular and 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T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Z\u00fcchner","sequence":"additional","affiliation":[{"name":"Dr John T. 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