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J Korean Bal Soc > Volume 2(2); 2003 > Article
Journal of the Korean Balance Society 2003;2(2): 247-251.
간헐성 및 척수소뇌조화운동불능
김지수, 정선미, 문소영
서울대학교 의과대학 신경과학교실, 분당서울대학교병원 신경과
Episodic and Spinocerebellar Ataxia
Ji Soo Kim, MD, Seon-Mi Jeong, BSc; So Young Moon, MD
Department of Neurology, College of Medicine, Seoul National University, Seoul National University Bundang Hospital
ABSTRACT
Episodic ataxia (EA) is a hereditary disorder characterized by recurrent episodes of ataxia that are triggered by stress and exercise. Most patients recover fully between attacks, but some may develop progressive ataxia with cerebellar atrophy. EA type 1 (EA1) is caused by missense mutations in the potassium channel gene KCNA1, while EA type 2 (EA2) is owing to mutations in the calcium channel gene CACNA1A. Spinocerebellar ataxia type 6 (SCA6) and familial hemiplegic migraine are allelic disorders of EA2 and may show episodic ataxia. Treatment with acetazolamide can be effective in decreasing the frequency of attacks in these diseases.
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