Charlevoix-Saguenay의 상염색체열성강직실조
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
봉정빈, 김승우, 이승태, 최종락, 신하영,
소속 상세정보
봉정빈 ( Bong Jeong-Bin )
연세대학교 의과대학 신경과학교실
김승우 ( Kim Seung-Woo )
연세대학교 의과대학 신경과학교실
이승태 ( Lee Seung-Tae )
연세대학교 의과대학 진단검사의학교실
최종락 ( Choi Jong-Rak )
연세대학교 의과대학 진단검사의학교실
신하영 ( Shin Ha-Young )
연세대학교 의과대학 신경과학교실
Abstract
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), which is caused by mutations in SACS gene, is a very rare neurodegenerative disorder characterized by the clinical triad of early onset cerebellar ataxia, pyramidal tract features, and sensorimotor polyneuropathy. Herein, we report a 35-year-old Korean male who presented with gait disturbance and lower extremity weakness. Neuroimaging and ophthalmologic evaluation revealed features consistent with ARSACS. Mutation in SACS gene was demonstrated in clinical exome sequence analysis and the patient was finally diagnosed as ARSACS.
키워드
Spastic ataxia Charlevoix-Saguenay type; Cerebellar Ataxia; SACS gene
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