{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,8]],"date-time":"2026-08-08T09:42:28Z","timestamp":1786182148443,"version":"build-2736575974"},"reference-count":30,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,8,8]],"date-time":"2026-08-08T00:00:00Z","timestamp":1786147200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,8,8]],"date-time":"2026-08-08T00:00:00Z","timestamp":1786147200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Spinocerebellar ataxia type 10 (SCA10 or ATX\u2010\n                      <jats:italic>ATXN10<\/jats:italic>\n                      ) is typically attributed to large intronic ATTCT repeat expansions in\n                      <jats:italic>ATXN10<\/jats:italic>\n                      , yet interpretation is complicated by repeat interruptions, reduced penetrance, and assay limitations.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Cases<\/jats:title>\n                    <jats:p>\n                      We describe three patients referred for SCA10 evaluation in whom\n                      <jats:italic>ATXN10<\/jats:italic>\n                      repeat\u2010primed PCR (RP\u2010PCR) reported \u201c&gt;32 repeats, probable pathogenic.\u201d Targeted long\u2010read sequencing (LRS) identified two individuals with intermediate, mixed repeat tracts (~100\u2013150 repeats) and one individual with a very large, highly pure ATTCT expansion (~1127 repeats). Each phenotype was explained by an alternative disorder: spastic ataxia syndrome caused by biallelic pathogenic\n                      <jats:italic>FA2H<\/jats:italic>\n                      variants (HSP\/ATX\u2010\n                      <jats:italic>FA2H<\/jats:italic>\n                      ), full\u2010penetrance\n                      <jats:italic>ATXN3<\/jats:italic>\n                      CAG expansion consistent with SCA3\/ATX\u2010\n                      <jats:italic>ATXN3<\/jats:italic>\n                      , and clinically established MSA\u2010C.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Literature Review<\/jats:title>\n                    <jats:p>\n                      We identified three studies reporting four ATX\u2010\n                      <jats:italic>ATXN10<\/jats:italic>\n                      cases coexisting with Huntington's disease (one case) and SCA2\/ATX\u2010\n                      <jats:italic>ATXN2<\/jats:italic>\n                      (three cases).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      Our three cases suggest that intermediate\n                      <jats:italic>ATXN10<\/jats:italic>\n                      alleles in the 100\u2013150 range may not be pathogenic and large\n                      <jats:italic>ATXN10<\/jats:italic>\n                      expansions remain probably pathogenic in most patients with a compatible autosomal\u2010dominant ataxia phenotype. Comprehensive genetic testing beyond RP\u2010PCR is necessary for accurate diagnosis.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mdc3.70765","type":"journal-article","created":{"date-parts":[[2026,8,8]],"date-time":"2026-08-08T08:51:28Z","timestamp":1786179088000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Expanded\n                    <scp>\n                      <i>ATXN10<\/i>\n                    <\/scp>\n                    Alleles in Neurodegenerative Disorders: A Case Series and Review of the Literature"],"prefix":"10.1002","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6313-5680","authenticated-orcid":false,"given":"Mario","family":"Cornejo\u2010Olivas","sequence":"first","affiliation":[{"name":"Neurogenetics Working Group Universidad Cientifica del Sur  Lima Peru"},{"name":"Neurogenetics Research Center Instituto Nacional de Ciencias Neurologicas  Lima Peru"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-3470-5467","authenticated-orcid":false,"given":"Angelica","family":"Raney","sequence":"additional","affiliation":[{"name":"Department of Pathology Stanford University School of Medicine  Stanford CA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8552-8792","authenticated-orcid":false,"given":"Alonso","family":"Abad","sequence":"additional","affiliation":[{"name":"Neurogenetics Working Group Universidad Cientifica del Sur  Lima Peru"},{"name":"Neurogenetics Research Center Instituto Nacional de Ciencias Neurologicas  Lima Peru"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-3241-5165","authenticated-orcid":false,"given":"Kamilla","family":"Sedov","sequence":"additional","affiliation":[{"name":"Department of Pathology Stanford University School of Medicine  Stanford CA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1562-3062","authenticated-orcid":false,"given":"Elison","family":"Sarapura\u2010Castro","sequence":"additional","affiliation":[{"name":"Neurogenetics Working Group Universidad Cientifica del Sur  Lima Peru"},{"name":"Neurogenetics Research Center Instituto Nacional de Ciencias Neurologicas  Lima Peru"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-6800-0855","authenticated-orcid":false,"given":"Harmony M.","family":"Sosa","sequence":"additional","affiliation":[{"name":"Department of Pathology Stanford University School of Medicine  Stanford CA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0242-6876","authenticated-orcid":false,"given":"Carla","family":"Manrique\u2010Enciso","sequence":"additional","affiliation":[{"name":"Neurogenetics Working Group Universidad Cientifica del Sur  Lima Peru"},{"name":"Neurogenetics Research Center Instituto Nacional de Ciencias Neurologicas  Lima Peru"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1507-5297","authenticated-orcid":false,"given":"C. 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