Episodic ataxia type 2症例の神経耳科学的所見

Neuro-Otological Findings of a Case of Episodic Ataxia Type 2

　はじめに

　Episodic ataxia type 2（EA−2）は，常染色体19pの異常によるCaチャンネルの異常が原因とされる発作性の失調を主徴とする疾患である^1）。われわれは，EA−2と考えられる症例の神経耳科学的所見を検討する機会を得たので，その結果について報告する。

We reported a 25-year-old man with episodic ataxia type 2 (EA-2). Since the age of 2 he hadattacks of vertigo and difficulty walking every month. He was treated as a case of epilepsy. Although his EEG became normal by the age of 12, the paroxysmal walking disorders continued. Dur-ing the period of intermittence, he showed gaze-evoked nystagmus, down beating positioning nystagmus, saccadic pursuit, and absence of visual suppression. During the period of attack, his gazed-evoked nystagmus and saccadic pursuit were en-forced Aretazolamide was effertivp in this case.