A Novel Homozygous Frameshift Variant of SACS Gene in the Turkish Siblings With Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)

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dc.authorid0000-0002-5914-7715
dc.contributor.authorCokyaman, Turgay
dc.contributor.authorSaltik, Zeynep Alara
dc.contributor.authorTuran, Nihan Ecmel
dc.date.accessioned2026-02-03T12:03:18Z
dc.date.available2026-02-03T12:03:18Z
dc.date.issued2025
dc.departmentÇanakkale Onsekiz Mart Üniversitesi
dc.description.abstractPathogenic 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.
dc.identifier.doi10.1002/jdn.70023
dc.identifier.issn0736-5748
dc.identifier.issn1873-474X
dc.identifier.issue3
dc.identifier.pmid40396211
dc.identifier.scopus2-s2.0-105005543673
dc.identifier.scopusqualityQ3
dc.identifier.urihttps://doi.org/10.1002/jdn.70023
dc.identifier.urihttps://hdl.handle.net/20.500.12428/35005
dc.identifier.volume85
dc.identifier.wosWOS:001496172500002
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherWiley
dc.relation.ispartofInternational Journal of Developmental Neuroscience
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.snmzKA_WOS_20260130
dc.subjectcerebellar ataxia
dc.subjectframeshift variant
dc.subjectintentional tremor
dc.subjectnovel variant
dc.subjectSACS gene
dc.titleA Novel Homozygous Frameshift Variant of SACS Gene in the Turkish Siblings With Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)
dc.typeArticle

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