J Korean Neurol Assoc.
2019 Feb;37(1):69-72. 10.17340/jkna.2019.1.13.
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
- Affiliations
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- 1Department of Neurology, Yonsei University College of Medicine, Seoul, Korea. hayshin@yuhs.ac
- 2Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea.
- KMID: 2449297
- DOI: http://doi.org/10.17340/jkna.2019.1.13
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.
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