Cokyaman, TurgaySaltik, Zeynep AlaraTuran, Nihan Ecmel2026-02-032026-02-0320250736-57481873-474Xhttps://doi.org/10.1002/jdn.70023https://hdl.handle.net/20.500.12428/35005Pathogenic variants of sacsin (SACS) gene cause autosomal recessive Spastic Ataxia of Charlevoix-Saguenay (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 SACS frameshift variant in two Turkish siblings. We detected a new homozygous frameshift variant of the SACS gene in the Turkish siblings diagnosed with ARSACS for the first time.eninfo:eu-repo/semantics/closedAccesscerebellar ataxiaframeshift variantintentional tremornovel variantSACS geneArticle85310.1002/jdn.70023Q3WOS:0014961725000022-s2.0-10500554367340396211Q3