Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
- Author:
Jeong Bin BONG
1
;
Seung Woo KIM
;
Seung Tae LEE
;
Jong Rak CHOI
;
Ha Young SHIN
Author Information
- Publication Type:Case Report
- Keywords: Spastic ataxia Charlevoix-Saguenay type; Cerebellar Ataxia; SACS gene
- MeSH: Adult; Ataxia; Cerebellar Ataxia; Exome; Gait; Humans; Lower Extremity; Male; Muscle Spasticity; Neurodegenerative Diseases; Neuroimaging; Polyneuropathies; Pyramidal Tracts; Sequence Analysis; Spinocerebellar Degenerations
- From:Journal of the Korean Neurological Association 2019;37(1):69-72
- CountryRepublic of Korea
- Language:Korean
- 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.
