首页 | 本学科首页   官方微博 | 高级检索  
     


Spinocerebellar ataxia types 2 and 3 segregating simultaneously in a single family.
Authors:Marcondes C Fran?a  Maria E Calcagnotto  Jaderson C da Costa  Iscia Lopes-Cendes
Affiliation:Department of Neurology, Universidade Estadual de Campinas-UNICAMP, Campinas, Brazil.
Abstract:
Spinocerebellar ataxia (SCA) types 2 and 3 are autosomal-dominant neurodegenerative disorders caused by mutations in two different genes. We identified mutations for SCA2 and SCA3 segregating simultaneously in a single Brazilian family. The index patient had SCA2, whereas her two second-degree cousins had SCA3. Disease was more rapidly progressive in the SCA2 patient, who presented severe brainstem and pancerebellar atrophy, as opposed to the two SCA3 patients, who had only mild cerebellar vermian atrophy. In such situations, molecular confirmation of all patients may avoid misdiagnosis of SCA subtypes and eventual errors in predictive testing of unaffected family members.
Keywords:SCA2  SCA3  Machado–Joseph disease  genetic testing
设为首页 | 免责声明 | 关于勤云 | 加入收藏

Copyright©北京勤云科技发展有限公司  京ICP备09084417号