Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Jeong Bin Bong, Seung Woo Kim, Seung-Tae Lee, Jong Rak Choi, Ha Young Shin
2019 Journal of the Korean Neurological Association  
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
more » ... ation in SACS gene was demonstrated in clinical exome sequence analysis and the patient was finally diagnosed as ARSACS.
doi:10.17340/jkna.2019.1.13 fatcat:plrf4bkmavbttphiaiy6wtol44