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 CASE REPORTS
Year : 2018  |  Volume : 13  |  Issue : 3  |  Page : 355-357

Autosomal-recessive spastic ataxia of Charlevoix-Saguenay: A Turkish child


1 Division of Child Neurology, Department of Pediatrics, Cukurova University Faculty of Medicine, Adana, Turkey
2 Department of Pediatrics, Medical Genetics, Cukurova University Faculty of Medicine, Adana, Turkey

Correspondence Address:
Dr. Faruk Incecik
Toros Mah., Barış Manço Bul. 78178 Sok., Yeşilpark Evleri, A Blok, Kat: 7/13, Çukurova, Adana
Turkey
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/JPN.JPN_8_18

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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.






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