Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: A Turkish Child
JOURNAL OF PEDIATRIC NEUROSCIENCES, cilt.13, sa.3, ss.355-357, 2018 (ESCI, Scopus)
- 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.