| Literature DB >> 16750929 |
Stefano Goldwurm1, Michela Zini, Alessio Di Fonzo, Danilo De Gaspari, Chiara Siri, Erik J Simons, Marina van Doeselaar, Silvana Tesei, Angelo Antonini, Margherita Canesi, Anna Zecchinelli, Claudio Mariani, Nicoletta Meucci, Giorgio Sacilotto, Roberto Cilia, Ioannis U Isaias, A Bonetti, Francesca Sironi, Sara Ricca, Ben A Oostra, Vincenzo Bonifati, Gianni Pezzoli.
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.Entities:
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Year: 2006 PMID： 16750929 DOI： 10.1016/j.parkreldis.2006.04.001
Source DB: PubMed Journal: Parkinsonism Relat Disord ISSN： 1353-8020 Impact factor: 4.891