首页 | 本学科首页   官方微博 | 高级检索  
     


LRRK2 G2019S mutation and Parkinson's disease: a clinical, neuropsychological and neuropsychiatric study in a large Italian sample
Authors:Goldwurm Stefano  Zini Michela  Di Fonzo Alessio  De Gaspari Danilo  Siri Chiara  Simons Erik J  van Doeselaar Marina  Tesei Silvana  Antonini Angelo  Canesi Margherita  Zecchinelli Anna  Mariani Claudio  Meucci Nicoletta  Sacilotto Giorgio  Cilia Roberto  Isaias Ioannis U  Bonetti A  Sironi Francesca  Ricca Sara  Oostra Ben A  Bonifati Vincenzo  Pezzoli Gianni
Affiliation:Parkinson Institute, Istituti Clinici di Perfezionamento, Milan, Italy. goldwurm@parkinson.it
Abstract:We analysed the Leucine-Rich Repeat Kinase 2 (LRRK2) gene for the G2019S mutation in 1245 consecutive, unrelated patients with primary degenerative parkinsonism, and collected information on medical history, motor, cognitive and neuropsychiatric functions to characterize the clinical phenotype associated to the G2019S mutation. The mutation was detected in heterozygous state in 19 probands (1.7%), and in five additional affected relatives. Clinical features in carriers were those of typical, idiopathic Parkinson's disease. However, behavioural abnormalities were frequent (87%), suggesting a more widespread limbic involvement in G2019S carriers.
Keywords:
本文献已被 PubMed 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