カイダ　ケンイチ   KAIDA Kenichi   海田　賢一    所属   埼玉医科大学  医学部 総合医療センター　脳神経内科    職種   教授
論文種別	学術雑誌(原著)
言語種別	英語
査読の有無	査読あり
表題	Familial paroxysmal dystonic choreoathetosis: Clinical findings in a large Japanese family and genetic linkage to 2q
掲載誌名	正式名：Archives of Neurology ISSNコード：00039942
巻・号・頁	56(6),721-726頁
著者・共著者	Hirotaka Matsuo,Keiko Kamakura,Masaaki Saito,Masamichi Okano,Terumasa Nagase,Yutaka Tadano,Ken-Ichi Kaida,Akira Hirata,Norikazu Miyamoto,Toshihiro Masaki,Ryohji Nakamura,Kazuo Motoyoshi,Hajime Tanaka,Shoji Tsuji
発行年月	1999/06
概要	Background: Paroxysmal dystonic choreoathetosis (PDC) is a rare familial movement disorder that has been mapped to chromosome 2q31-36. Objective: To study the first Japanese family with PDC clinically and genetically. Patients and Methods: We studied a large Japanese family in which at least 17 members in 6 generations have been affected by PDC. We interviewed and examined 26 family members, 8 of whom revealed choreoathetosislike and dystonialike involuntary movement and 1 of whom revealed noinvoluntary movement but only muscle stiffness such as the aura of paroxysmal dystonic choreoathetosis (PDC). Genetic linkage studies of this family were carried out with polymorphic DNA markers. Results: The attacks of involuntary movement or muscle stiffness were precipitated by ovulation, menstruation, emotional stress, or caffeine or alcohol ingestion. Magnetic resonance imaging of the brain revealed no abnormalities, Clonazepam therapy was effective for reducing the attacks, and ingestion of garlic was believed by patients to be effective for softening the attacks. An affected woman with only muscle stiffness showed remission after hysterectomy for hysteromyoma. This woman also had the di
DOI	10.1001/archneur.56.6.721
PMID	10369313