{"title":"运动障碍伴铜代谢异常1例报告并文献复习。","authors":"K Araki, I Tachibana, Y Ueda, K Kashima","doi":"10.2169/internalmedicine1962.30.383","DOIUrl":null,"url":null,"abstract":"<p><p>We describe a neurological disease, seen in the elder sister of identical twins, with dysarthria, involuntary movements, spastic gait, slightly low serum copper, borderline low to normal serum ceruloplasmin, normal urinary copper, and a high hair copper concentration. This neurological disorder appears to differ from others associated with abnormal copper metabolism such as Wilson's or Menkes' kinky hair disease.</p>","PeriodicalId":14798,"journal":{"name":"Japanese journal of medicine","volume":"30 4","pages":"383-6"},"PeriodicalIF":0.0000,"publicationDate":"1991-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2169/internalmedicine1962.30.383","citationCount":"2","resultStr":"{\"title\":\"Movement disorder with abnormal copper metabolism--a case report and review of the literature.\",\"authors\":\"K Araki, I Tachibana, Y Ueda, K Kashima\",\"doi\":\"10.2169/internalmedicine1962.30.383\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>We describe a neurological disease, seen in the elder sister of identical twins, with dysarthria, involuntary movements, spastic gait, slightly low serum copper, borderline low to normal serum ceruloplasmin, normal urinary copper, and a high hair copper concentration. This neurological disorder appears to differ from others associated with abnormal copper metabolism such as Wilson's or Menkes' kinky hair disease.</p>\",\"PeriodicalId\":14798,\"journal\":{\"name\":\"Japanese journal of medicine\",\"volume\":\"30 4\",\"pages\":\"383-6\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"1991-07-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.2169/internalmedicine1962.30.383\",\"citationCount\":\"2\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Japanese journal of medicine\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.2169/internalmedicine1962.30.383\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Japanese journal of medicine","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.2169/internalmedicine1962.30.383","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Movement disorder with abnormal copper metabolism--a case report and review of the literature.
We describe a neurological disease, seen in the elder sister of identical twins, with dysarthria, involuntary movements, spastic gait, slightly low serum copper, borderline low to normal serum ceruloplasmin, normal urinary copper, and a high hair copper concentration. This neurological disorder appears to differ from others associated with abnormal copper metabolism such as Wilson's or Menkes' kinky hair disease.