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

Faruk İncecik | Zendy; OzlemM Hergüner | Zendy; Atıl Bişgin | Zendy

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

Author(s) -

Faruk İncecik,

OzlemM 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.

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