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

ÇOKYAMAN T., SALTIK Z. A., Turan N. E.

International Journal of Developmental Neuroscience, vol.85, no.3, 2025 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 85 Issue: 3
  • Publication Date: 2025
  • Doi Number: 10.1002/jdn.70023
  • Journal Name: International Journal of Developmental Neuroscience
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database
  • Keywords: cerebellar ataxia, frameshift variant, intentional tremor, novel variant, SACS gene
  • Çanakkale Onsekiz Mart University Affiliated: Yes

Abstract

Pathogenic 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.