LRRK2 G2019S mutation and Parkinson's disease:: A clinical, neuropsychological and neuropsychiatric study in a large Italian sample

被引:89
作者
Goldwurm, Stefano [1 ]
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
机构
[1] Ist Clin Perfezionamento, Parkinson Inst, Milan, Italy
[2] ErasmusMC, Dept Clin Genet, Rotterdam, Netherlands
[3] Univ Milan, Dept Neurol Sci, Ctr Dino Ferrari, Milan, Italy
[4] Fdn Osped Maggiore Policlin, Mol Genet Lab, Milan, Italy
[5] Univ Roma La Sapienza, Dept Neurol Sci, Rome, Italy
关键词
Parkinson; Park8; LRRK2; G2019S mutation; neuropsychological study;
D O I
10.1016/j.parkreldis.2006.04.001
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
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. (c) 2006 Elsevier Ltd. All rights reserved.
引用
收藏
页码:410 / 419
页数:10
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