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

被引：90

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

来源：

PARKINSONISM & RELATED DISORDERS | 2006年 / 12卷 / 07期

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

页码：410 / 419

页数：10

共 54 条

[1] Range of neuropsychiatric disturbances in patients with Parkinson's disease [J].

Aarsland, D ;

Larsen, JP ;

Lim, NG ;

Janvin, C ;

Karlsen, K ;

Tandberg, E ;

Cummings, JL .

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1999, 67 (04) :492-496

[2] A systematic review of prevalence studies of dementia in Parkinson's disease [J].

Aarsland, D ;

Zaccai, J ;

Brayne, C .

MOVEMENT DISORDERS, 2005, 20 (10) :1255-1263

[3]

[Anonymous], 1995, Coloured progressive matrices

[4] The Frontal Assessment Battery (FAB): Normative values in an Italian population sample [J].

Appollonio, I ;

Leone, M ;

Isella, V ;

Piamarta, F ;

Consoli, T ;

Villa, ML ;

Forapani, E ;

Russo, A ;

Nichelli, P .

NEUROLOGICAL SCIENCES, 2005, 26 (02) :108-116

[5] Type and frequency of mutations in the LRRK2 gene in familial and sporadic Parkinson's disease [J].

Berg, D ;

Schweitzer, KJ ;

Leitner, P ;

Zimprich, A ;

Lichtner, P ;

Belcredi, P ;

Brüssel, T ;

Schulte, C ;

Maass, S ;

Nägele, T ;

Wszolek, ZK ;

Gasser, T .

BRAIN, 2005, 128 :3000-3011

[6] Analysis of LRRK2 G2019S and I2020T mutations in Parkinson's disease [J].

Bialecka, M ;

Hui, S ;

Klodowska-Duda, G ;

Opala, G ;

Tan, EK ;

Drozdzik, M .

NEUROSCIENCE LETTERS, 2005, 390 (01) :1-3

[7] Unraveling the pathogenesis of Parkinson's disease - the contribution of monogenic forms [J].

Bonifati, V ;

Oostra, BA ;

Heutink, P .

CELLULAR AND MOLECULAR LIFE SCIENCES, 2004, 61 (14) :1729-1750

[8] Roc, a Ras/GTPase domain in complex proteins [J].

Bosgraaf, L ;

Van Haastert, PJM .

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH, 2003, 1643 (1-3) :5-10

[9] G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort [J].

Bras, JM ;

Guerreiro, RJ ;

Ribeiro, MH ;

Januario, C ;

Morgadinho, A ;

Oliveira, CR ;

Cunha, L ;

Hardy, J ;

Singleton, A .

MOVEMENT DISORDERS, 2005, 20 (12) :1653-1655

[10] THE NEUROPSYCHIATRIC INVENTORY - COMPREHENSIVE ASSESSMENT OF PSYCHOPATHOLOGY IN DEMENTIA [J].

CUMMINGS, JL ;

MEGA, M ;

GRAY, K ;

ROSENBERGTHOMPSON, S ;

CARUSI, DA ;

GORNBEIN, J .

NEUROLOGY, 1994, 44 (12) :2308-2314

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