首页 | 本学科首页   官方微博 | 高级检索  
     


An unusual family with multiplemovement disorders
Authors:Mark?Edwards,Noemi?Russo,Beatrice?Summers,Jenny?Morton,Deirdre?Peake,Kailash?Bhatia  mailto:k.bhatia@ion.ucl.ac.uk"   title="  k.bhatia@ion.ucl.ac.uk"   itemprop="  email"   data-track="  click"   data-track-action="  Email author"   data-track-label="  "  >Email author
Affiliation:Sobell Department of Motor Neuroscience & Movement Disorders, Institute of Neurology, Queen Square, London, WC1N 3BG, UK.
Abstract:
Multiple movement disorders presenting in the same family are rare. We present an unusual family where generalized dystonia, Huntington's disease, progressive supranuclear palsy and secondary paroxysmal dyskinesia co-exist. The index case presented with young-onset dystonia and tested negative for the DYT1 gene deletion. Her father was similarly affected. The father's brother (paternal uncle of the index) also had abnormal movements-a mixture of chorea and dystonia-and tested positive for the HD expansion. His son had secondary paroxysmal dyskinesia, and tested negative for the HD expansion. The index case and her father were also negative for the HD expansion. A paternal aunt of two of the cases had a clinical diagnosis of progressive supranuclear palsy.Dystonia is known to be a genetically heterogeneous condition. The co-existence of inherited generalized dystonia with other movement disorders may provide clues to its genetic localization.
Keywords:
本文献已被 PubMed SpringerLink 等数据库收录!
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