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KMID : 0359720190370010069
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Journal of the Korean Neurological Association
2019 Volume.37 No. 1 p.69 ~ p.72
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Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
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Bong Jeong-Bin
Kim Seung-Woo
Lee Seung-Tae
Choi Jong-Rak
Shin Ha-Young
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Abstract
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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.
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KEYWORD
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Spastic ataxia Charlevoix-Saguenay type, Cerebellar Ataxia, SACS gene
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