{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T09:19:09Z","timestamp":1770801549086,"version":"3.50.0"},"reference-count":24,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,12,7]],"date-time":"2025-12-07T00:00:00Z","timestamp":1765065600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2025,12,7]],"date-time":"2025-12-07T00:00:00Z","timestamp":1765065600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2026,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Autosomal recessive spastic ataxia of Charlevoix\u2010Saguenay (ARSACS) is caused by biallelic pathogenic variants in the\n                    <jats:italic>SACS<\/jats:italic>\n                    gene. We report the clinical, radiologic and neurophysiologic features of a pair of half\u2010siblings who presented with progressive cerebellar ataxia, peripheral neuropathy and upper motor neuron signs. After significant diagnostic delay, genetic testing revealed both harboured a shared, paternally inherited microdeletion encompassing the\n                    <jats:italic>SACS<\/jats:italic>\n                    gene, and each harboured a different single nucleotide variant in\n                    <jats:italic>SACS<\/jats:italic>\n                    , each likely maternally inherited. Recognition of the clinical and radiologic phenotype of ARSACS may facilitate early diagnosis of this disorder even in the face of uncommon inheritance patterns.\n                  <\/jats:p>","DOI":"10.1002\/acn3.70236","type":"journal-article","created":{"date-parts":[[2025,12,7]],"date-time":"2025-12-07T22:40:21Z","timestamp":1765147221000},"page":"413-417","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Autosomal Recessive Spastic Ataxia of Charlevoix\u2010Saguenay in Two Half\u2010Siblings"],"prefix":"10.1002","volume":"13","author":[{"given":"Dennis","family":"Yeow","sequence":"first","affiliation":[{"name":"Neurodegenerative Service Prince of Wales Hospital and Neuroscience Research Australia  Randwick New South Wales Australia"},{"name":"Faculty of Medicine and Healthy University of Sydney  Camperdown New South Wales Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthew","family":"Katz","sequence":"additional","affiliation":[{"name":"Department of Neurology Royal Brisbane &amp; Women's Hospital  Brisbane Queensland Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jonathan","family":"Rodgers","sequence":"additional","affiliation":[{"name":"Genetic Health Queensland Royal Brisbane and Women's Hospital  Brisbane Queensland Australia"},{"name":"University of Queensland  Brisbane Queensland Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark","family":"Davis","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Genomics Pathwest Laboratory Medicine  Perth Western Australia Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Robertson","sequence":"additional","affiliation":[{"name":"University of Queensland  Brisbane Queensland Australia"},{"name":"Department of Pathology Royal Brisbane &amp; Women's Hospital  Brisbane Queensland Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. J. McKinlay","family":"Gardner","sequence":"additional","affiliation":[{"name":"Clinical Genetics Group University of Otago  Dunedin New Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pamela A.","family":"McCombe","sequence":"additional","affiliation":[{"name":"Department of Neurology Royal Brisbane &amp; Women's Hospital  Brisbane Queensland Australia"},{"name":"University of Queensland  Brisbane Queensland Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,12,7]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/72769"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-008-0131-7"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181f4d86c"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-41"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.51002"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.29871"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awy028"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.29397"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181d7d8a0"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.58"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-008-0159-8"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24509"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2019.03.008"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-1331.2012.03815.x"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1159\/000331319"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2016.10.032"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1789.2006.00664.x"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22269"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000012962"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/braincomms\/fcae243"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-024-01777-9"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.60.7.982"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2015-310835"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000188879.19900.b7"}],"container-title":["Annals of Clinical and Translational Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/acn3.70236","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/acn3.70236","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/acn3.70236","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,9]],"date-time":"2026-02-09T06:13:09Z","timestamp":1770617589000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/acn3.70236"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12,7]]},"references-count":24,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2026,2]]}},"alternative-id":["10.1002\/acn3.70236"],"URL":"https:\/\/doi.org\/10.1002\/acn3.70236","archive":["Portico"],"relation":{},"ISSN":["2328-9503","2328-9503"],"issn-type":[{"value":"2328-9503","type":"print"},{"value":"2328-9503","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,12,7]]},"assertion":[{"value":"2025-08-16","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-10-01","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-12-07","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}