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


İNCECİK F. , HERGUNER O. M. , BİŞGİN A.

JOURNAL OF PEDIATRIC NEUROSCIENCES, cilt.13, ss.355-357, 2018 (ESCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 13 Konu: 3
  • Basım Tarihi: 2018
  • Doi Numarası: 10.4103/jpn.jpn_8_18
  • Dergi Adı: JOURNAL OF PEDIATRIC NEUROSCIENCES
  • Sayfa Sayısı: ss.355-357

Özet

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.