{"title":"[Hallgren's syndrome in one family: retinitis pigmentosa, congenital deafness and ataxia].","authors":"G A Urquidi, A M Topaz","doi":"","DOIUrl":null,"url":null,"abstract":"<p><p>A family of 6 siblings, 4 of which have Hallgren's syndrome, i.e., retinitis pigmentosa, congenital deafness and ataxia is described. Hallgren's series in Sweden is referred to. This affection was ascribed by Hallgren to a single gene with almost complete penetrance. However, 3 brothers of the present series show neurological anomalies not present in the Swedish cases.</p>","PeriodicalId":75394,"journal":{"name":"Acta neurologica latinoamericana","volume":"25 1-2","pages":"75-9"},"PeriodicalIF":0.0000,"publicationDate":"1979-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Acta neurologica latinoamericana","FirstCategoryId":"1085","ListUrlMain":"","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
A family of 6 siblings, 4 of which have Hallgren's syndrome, i.e., retinitis pigmentosa, congenital deafness and ataxia is described. Hallgren's series in Sweden is referred to. This affection was ascribed by Hallgren to a single gene with almost complete penetrance. However, 3 brothers of the present series show neurological anomalies not present in the Swedish cases.