Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: A Turkish Child

İNCECİK F., HERGUNER O. M., BİŞGİN A.

JOURNAL OF PEDIATRIC NEUROSCIENCES, vol.13, no.3, pp.355-357, 2018 (ESCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 13 Issue: 3
  • Publication Date: 2018
  • Doi Number: 10.4103/jpn.jpn_8_18
  • Journal Name: JOURNAL OF PEDIATRIC NEUROSCIENCES
  • Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus
  • Page Numbers: pp.355-357
  • Keywords: Autosomal recessive spastic ataxia of Charlevoix-Saguenay, ataxia, genetic study, FEATURES
  • Çukurova University Affiliated: Yes

Abstract

Autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is caused by mutations of the SACS gene, characterized by late-infantile-onset spastic ataxia and other neurological features. ARSACS has a high prevalence in northeastern Quebec, Canada. Recently, several ARSACS cases have been reported from outside Canada. We report typical clinical and neuroimaging features in a Turkish child, which confirmed genetic diagnosis of ARSACS.