首页 | 本学科首页   官方微博 | 高级检索  
     


G2019S mutation in the leucine-rich repeat kinase 2 gene is not associated with multiple system atrophy.
Authors:Laurie J Ozelius  Tatiana Foroud  Susanne May  Geetha Senthil  Paola Sandroni  Phillip A Low  Stephen Reich  Amy Colcher  Matthew B Stern  William G Ondo  Joseph Jankovic  Neng Huang  Caroline M Tanner  Peter Novak  Sid Gilman  Frederick J Marshall  G Frederick Wooten  Thomas C Chelimsky  Clifford W Shults
Affiliation:Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York, USA.
Abstract:Multiple system atrophy (MSA) is characterized clinically by Parkinsonism, cerebellar dysfunction, and autonomic impairment. Multiple mutations in the LRRK2 gene are associated with parkinsonian disorders, and the most common one, the G2019S mutation, has been found in approximately 1% of sporadic cases of Parkinsonism. In a well-characterized cohort of 136 subjects with probable MSA and 110 neurologically evaluated control subjects, none carried the G2019S mutation. We conclude that the G2019S mutation in the LRRK2 gene is unlikely to be associated with MSA.
Keywords:multiple system atrophy  LRRK2  Parkinsonism
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