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


İNCECİK F., HERGUNER O. M., BİŞGİN A.

JOURNAL OF PEDIATRIC NEUROSCIENCES, cilt.13, sa.3, ss.355-357, 2018 (ESCI) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 13 Sayı: 3
  • Basım Tarihi: 2018
  • Doi Numarası: 10.4103/jpn.jpn_8_18
  • Dergi Adı: JOURNAL OF PEDIATRIC NEUROSCIENCES
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus
  • Sayfa Sayıları: ss.355-357
  • Anahtar Kelimeler: Autosomal recessive spastic ataxia of Charlevoix-Saguenay, ataxia, genetic study, FEATURES
  • Çukurova Üniversitesi Adresli: Evet

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.