J Korean Neurol Assoc.  2019 Feb;37(1):69-72. 10.17340/jkna.2019.1.13.

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Affiliations
  • 1Department of Neurology, Yonsei University College of Medicine, Seoul, Korea. hayshin@yuhs.ac
  • 2Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea.

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.

Keyword

Spastic ataxia Charlevoix-Saguenay type; Cerebellar Ataxia; SACS gene

MeSH Terms

Adult
Ataxia*
Cerebellar Ataxia
Exome
Gait
Humans
Lower Extremity
Male
Muscle Spasticity*
Neurodegenerative Diseases
Neuroimaging
Polyneuropathies
Pyramidal Tracts
Sequence Analysis
Spinocerebellar Degenerations
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