{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T09:56:55Z","timestamp":1753869415150,"version":"3.41.2"},"reference-count":10,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2025,5,21]],"date-time":"2025-05-21T00:00:00Z","timestamp":1747785600000},"content-version":"vor","delay-in-days":20,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Intl J of Devlp Neuroscience"],"published-print":{"date-parts":[[2025,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Pathogenic variants of sacsin (<jats:italic>SACS)<\/jats:italic> gene cause autosomal recessive Spastic Ataxia of Charlevoix\u2010Saguenay (ARSACS). It is a hereditary neurological disorder manifested with gait ataxia, intentional tremor, lower limb pyramidal signs and pes cavus. It was originally described in the late 1970s and has a high prevalence in northeastern Quebec, Canada. Here, we present for the first time a new <jats:italic>SACS<\/jats:italic> frameshift variant in two Turkish siblings. We detected a new homozygous frameshift variant of the <jats:italic>SACS<\/jats:italic> gene in the Turkish siblings diagnosed with ARSACS for the first time.<\/jats:p>","DOI":"10.1002\/jdn.70023","type":"journal-article","created":{"date-parts":[[2025,5,21]],"date-time":"2025-05-21T08:43:54Z","timestamp":1747817034000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Novel Homozygous Frameshift Variant of <i>SACS<\/i> Gene in the Turkish Siblings With Autosomal Recessive Spastic Ataxia of Charlevoix\u2010Saguenay (ARSACS)"],"prefix":"10.1002","volume":"85","author":[{"given":"Turgay","family":"Cokyaman","sequence":"first","affiliation":[{"name":"Division of Pediatric Neurology, Department of Pediatrics, Faculty of Medicine \u00c7anakkale Onsekiz Mart University  \u00c7anakkale T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5914-7715","authenticated-orcid":false,"given":"Zeynep\u00a0Alara","family":"Saltik","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine \u00c7anakkale Onsekiz Mart University  \u00c7anakkale T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nihan\u00a0Ecmel","family":"Turan","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine \u00c7anakkale Onsekiz Mart University  \u00c7anakkale T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,5,21]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms23010552"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0317167100024793"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1113166109"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.4103\/JPN.JPN_8_18"},{"key":"e_1_2_9_6_1","unstructured":"OMIM (n.d.). (omim.org); *604490. SACSIN; SACS cytogenetic location:13q12.12. (https:\/\/www.omim.org\/entry\/612803?search=nars2&highlight=nars2) last visit: 04\/01\/2024."},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp067"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24509"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048\u2010004\u20100179\u2010y"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10072\u2010021\u201005117\u20101"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13760\u2010024\u201002627\u20105"}],"container-title":["International Journal of Developmental Neuroscience"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jdn.70023","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,27]],"date-time":"2025-05-27T09:12:19Z","timestamp":1748337139000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jdn.70023"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,5]]},"references-count":10,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2025,5]]}},"alternative-id":["10.1002\/jdn.70023"],"URL":"https:\/\/doi.org\/10.1002\/jdn.70023","archive":["Portico"],"relation":{},"ISSN":["0736-5748","1873-474X"],"issn-type":[{"type":"print","value":"0736-5748"},{"type":"electronic","value":"1873-474X"}],"subject":[],"published":{"date-parts":[[2025,5]]},"assertion":[{"value":"2025-02-18","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-05-14","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-05-21","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70023"}}