Title: Multicenter study of paroxysmal dyskinesias in Japan?Clinical and pedigree analysis
Abstract: Movement DisordersVolume 14, Issue 4 p. 658-663 Article Multicenter study of paroxysmal dyskinesias in Japan—Clinical and pedigree analysis Shinichiro Nagamitsu MD, Shinichiro Nagamitsu MD Department of Pediatrics and Child Health, Kurume University School of Medicine, FukuokaSearch for more papers by this authorToyojiro Matsuishi MD, Corresponding Author Toyojiro Matsuishi MD Department of Pediatrics and Child Health, Kurume University School of Medicine, FukuokaDepartment of Pediatrics and Child Health, Kurume University School of Medicine, 67 Asahi-machi, Kurume City 830-0011, JapanSearch for more papers by this authorKiyoshi Hashimoto MD, Kiyoshi Hashimoto MD Department of Pediatrics, Nihon Medical College, School of Medicine, TokyoSearch for more papers by this authorYushiro Yamashita MD, Yushiro Yamashita MD Department of Pediatrics and Child Health, Kurume University School of Medicine, FukuokaSearch for more papers by this authorMasao Aihara MD, Masao Aihara MD Department of Pediatrics, Yamanashi Medical College, YamanashiSearch for more papers by this authorKatsunori Shimizu MD, Katsunori Shimizu MD Department of Pediatrics, Hamamatsu Medical College, HamamatsuSearch for more papers by this authorMasashi Mizuguchi MD, Masashi Mizuguchi MD Department of Pediatrics, Jichi Medical College, TochigiSearch for more papers by this authorHiroko Iwamoto MD, Hiroko Iwamoto MD Division of Neurology, Kanagawa Prefectural Children's Medical Center, KanagawaSearch for more papers by this authorShinji Saitoh MD, Shinji Saitoh MD Department of Pediatrics, Hokkaido University School of Medicine, SapporoSearch for more papers by this authorYukiko Hirano MD, Yukiko Hirano MD Department of Pediatrics, Tokyo Women's Medical CollegeSearch for more papers by this authorHirohisa Kato MD, Hirohisa Kato MD Department of Pediatrics and Child Health, Kurume University School of Medicine, FukuokaSearch for more papers by this authorYukio Fukuyama MD, Yukio Fukuyama MD Child Neurology Institute, TokyoSearch for more papers by this authorMorimi Shimada MD, Morimi Shimada MD Department of Pediatrics, Shiga Medical College, Shiga, JapanSearch for more papers by this author Shinichiro Nagamitsu MD, Shinichiro Nagamitsu MD Department of Pediatrics and Child Health, Kurume University School of Medicine, FukuokaSearch for more papers by this authorToyojiro Matsuishi MD, Corresponding Author Toyojiro Matsuishi MD Department of Pediatrics and Child Health, Kurume University School of Medicine, FukuokaDepartment of Pediatrics and Child Health, Kurume University School of Medicine, 67 Asahi-machi, Kurume City 830-0011, JapanSearch for more papers by this authorKiyoshi Hashimoto MD, Kiyoshi Hashimoto MD Department of Pediatrics, Nihon Medical College, School of Medicine, TokyoSearch for more papers by this authorYushiro Yamashita MD, Yushiro Yamashita MD Department of Pediatrics and Child Health, Kurume University School of Medicine, FukuokaSearch for more papers by this authorMasao Aihara MD, Masao Aihara MD Department of Pediatrics, Yamanashi Medical College, YamanashiSearch for more papers by this authorKatsunori Shimizu MD, Katsunori Shimizu MD Department of Pediatrics, Hamamatsu Medical College, HamamatsuSearch for more papers by this authorMasashi Mizuguchi MD, Masashi Mizuguchi MD Department of Pediatrics, Jichi Medical College, TochigiSearch for more papers by this authorHiroko Iwamoto MD, Hiroko Iwamoto MD Division of Neurology, Kanagawa Prefectural Children's Medical Center, KanagawaSearch for more papers by this authorShinji Saitoh MD, Shinji Saitoh MD Department of Pediatrics, Hokkaido University School of Medicine, SapporoSearch for more papers by this authorYukiko Hirano MD, Yukiko Hirano MD Department of Pediatrics, Tokyo Women's Medical CollegeSearch for more papers by this authorHirohisa Kato MD, Hirohisa Kato MD Department of Pediatrics and Child Health, Kurume University School of Medicine, FukuokaSearch for more papers by this authorYukio Fukuyama MD, Yukio Fukuyama MD Child Neurology Institute, TokyoSearch for more papers by this authorMorimi Shimada MD, Morimi Shimada MD Department of Pediatrics, Shiga Medical College, Shiga, JapanSearch for more papers by this author First published: 24 January 2001 https://doi.org/10.1002/1531-8257(199907)14:4<658::AID-MDS1016>3.0.CO;2-7Citations: 38AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat Abstract To investigate the clinical features of paroxysmal dyskinesias and carry out a pedigree analysis, we conducted a multicenter survey in Japan. A questionnaire was mailed to 229 medical institutions. A total of 150 patients with paroxysmal kinesigenic choreoathetosis (PKC), including 53 sporadic cases and 97 affected individuals from 32 pedigrees, were identified. The mean age of onset of PKC was 8.8 years, and 80% of the cases were men. Of the 32 pedigrees with familial occurrence, 18 (56%) were compatible with an autosomal-dominant inheritance (AD) with complete penetrance, and seven (22%) had AD with incomplete penetrance; the remaining seven were sibling recurrence cases with apparently healthy parents. In six of seven familial cases with incomplete penetrance, the disease gene was thought to be transmitted by clinically unaffected females. Paroxysmal dystonic choreoathetosis (PDC) was found in five cases, including two sporadic cases and three affected individuals from two pedigrees; the mean age of onset was 0.6 years, and a male predominance was noted (male:female = 4:1). There was one case of paroxysmal hypnogenic dyskinesia and one case of paroxysmal exertion-induced dyskinesia. There is an unexplained male predominance for paroxysmal dyskinesias. When the genetic defect of patients with paroxysmal dyskinesias is identified, the pathophysiology of the disease will become more clear. REFERENCES 1Mount LA, Reback S. Familial paroxysmal choreoathetosis: preliminary report on a hitherto undescribed clinical syndrome. Arch Neurol Psychiatry 1940; 44: 841–847. 2Kertesz A. Paroxysmal kinesigenic choreoathetosis: an entity within the paroxysmal choreoathetosis syndrome. Description of 10 cases, including one autopsied. Neurology 1967; 17: 680–690. 3Lance JW. 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Hereditary myokymia and paroxysmal ataxia linked to chromosome 12 is responsive to acetazolamide. J Neurol Neurosurg Psychiatry 1995; 59: 400–405. Citing Literature Volume14, Issue4July 1999Pages 658-663 ReferencesRelatedInformation
Publication Year: 1999
Publication Date: 1999-07-01
Language: en
Type: article
Indexed In: ['crossref', 'pubmed']
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Cited By Count: 47
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