Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
Journal of the Korean Neurological Association
;
: 69-72, 2019.
Article
in Korean
| WPRIM
| ID: wpr-766742
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Polyneuropathies
/
Pyramidal Tracts
/
Ataxia
/
Spinocerebellar Degenerations
/
Cerebellar Ataxia
/
Sequence Analysis
/
Neurodegenerative Diseases
/
Lower Extremity
/
Neuroimaging
/
Exome
Limits:
Adult
/
Humans
/
Male
Language:
Korean
Journal:
Journal of the Korean Neurological Association
Year:
2019
Type:
Article
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