Open AccessAutosomal-recessive spastic ataxia of Charlevoix-Saguenay: A Turkish child
Author(s) -
Faruk Incecık,
Özlem Hergüner,
Atıl Bişgin
Publication year - 2018
Publication title -
journal of pediatric neurosciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.247
H-Index - 18
eISSN - 1998-3948
pISSN - 1817-1745
DOI - 10.4103/jpn.jpn_8_18
Subject(s) - medicine , ataxia , turkish , pediatrics , spastic , neuroimaging , genetics , psychiatry , cerebral palsy , biology , linguistics , philosophy
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.