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whole\u2010genome sequencing (WGS).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We performed WGS on a cohort of 187 patients with suspected hereditary ataxia. Clinical severity was assessed using the Scale for the Assessment and Rating of Ataxia and the International Cooperative Ataxia Rating Scale. Pathogenicity was determined according to American College of Medical Genetics and Genomics guidelines, and variants were validated via Sanger sequencing and co\u2010segregation analysis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We identified 109 variants across 56 genes, with a rate of 79.8% (87\/109) being novel. Definitive molecular diagnoses were achieved in 21 cases across 11 distinct subtypes.\n                      <jats:italic>SYNE1<\/jats:italic>\n                      and\n                      <jats:italic>SETX<\/jats:italic>\n                      were the most frequent genetic contributors, with\n                      <jats:italic>SETX<\/jats:italic>\n                      truncating mutations (c.22_23insTA) associated with higher clinical burden. Multisystemic features were identified, including conjunctival telangiectasia in\n                      <jats:italic>ATM<\/jats:italic>\n                      , progressive action myoclonus in\n                      <jats:italic>SCARB2<\/jats:italic>\n                      , and spastic paraplegia in\n                      <jats:italic>CAPN1<\/jats:italic>\n                      .\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>In this study with, to date the largest Chinese cohort of ARCA, 87 novel variants were classified, which significantly expanded the genomic and phenotype landscape of ARCA in the Chinese population. \u00a9 2026 International Parkinson and Movement Disorder Society.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mds.70381","type":"journal-article","created":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T02:00:43Z","timestamp":1780624843000},"page":"2467-2475","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genomic Landscape and Phenotypic Spectrum of Autosomal Recessive Cerebellar Ataxia in China"],"prefix":"10.1002","volume":"41","author":[{"given":"Xiaokai","family":"Shen","sequence":"first","affiliation":[{"name":"Department of Neurology Xiangya Hospital, Central South University  Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhao","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Neurology Xiangya Hospital, Central South University  Changsha China"},{"name":"Key Laboratory of Hunan Province in Neurodegenerative Disorders Central South University  Changsha China"},{"name":"National Clinical Research Center for Geriatric 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