オマタ　タク   OMATA Taku   小俣　卓    所属   医学部 医学科（附属八千代医療センター）    職種   准教授
論文種別	症例報告
言語種別	英語
査読の有無	査読あり
表題	Genetic diagnosis and acetazolamide treatment of familial hemiplegic migraine.
掲載誌名	正式名：Brain & development 略　 称：Brain Dev ISSNコード：18727131/03877604
掲載区分	国外
巻・号・頁	33(4),pp.332-334
著者・共著者	Taku Omata†*, Jun-ichi Takanashi, Takahito Wada, Hidee Arai, Yuzo Tanabe
担当区分	筆頭著者,責任著者
発行年月	2011/04
概要	A female patient presented with horizontal gaze nystagmus, mild cerebellar ataxia, recurrent headache and hemiplegia since childhood with cerebellar atrophy on magnetic resonance imaging. Genetic analysis revealed a CACNA1A gene mutation, leading to a diagnosis of familial hemiplegic migraine (FHM1). FHM is very rare, but should be considered as a differential diagnosis for childhood cerebellar symptoms and/or cerebellar atrophy. To avoid missing FHM1, a detailed clinical history including headache or hemiplegia is essential. Oral acetazolamide during the aura phase, comprising mild headache and abnormal leg sensation, relieved these symptoms in this patient, suggesting that acetazolamide could represent a first line of treatment.
DOI	10.1016/j.braindev.2010.05.006
PMID	20542393