title: LRRK2 G2019S mutation and Parkinson's disease: a clinical, neuropsychological and neuropsychiatric study in a large Italian sample.
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.
authors.affiliation: Parkinson Institute, Istituti Clinici di Perfezionamento, Milan, Italy. goldwurm@parkinson.it
authors.forename: Stefano
authors.initials: S
authors.lastname: Goldwurm
authors.forename: Michela
authors.initials: M
authors.lastname: Zini
authors.forename: Alessio
authors.initials: A
authors.lastname: Di Fonzo
authors.forename: Danilo
authors.initials: D
authors.lastname: De Gaspari
authors.forename: Chiara
authors.initials: C
authors.lastname: Siri
authors.forename: Erik J
authors.initials: EJ
authors.lastname: Simons
authors.forename: Marina
authors.initials: M
authors.lastname: van Doeselaar
authors.forename: Silvana
authors.initials: S
authors.lastname: Tesei
authors.forename: Angelo
authors.initials: A
authors.lastname: Antonini
authors.forename: Margherita
authors.initials: M
authors.lastname: Canesi
authors.forename: Anna
authors.initials: A
authors.lastname: Zecchinelli
authors.forename: Claudio
authors.initials: C
authors.lastname: Mariani
authors.forename: Nicoletta
authors.initials: N
authors.lastname: Meucci
authors.forename: Giorgio
authors.initials: G
authors.lastname: Sacilotto
authors.forename: Roberto
authors.initials: R
authors.lastname: Cilia
authors.forename: Ioannis U
authors.initials: IU
authors.lastname: Isaias
authors.forename: A
authors.initials: A
authors.lastname: Bonetti
authors.forename: Francesca
authors.initials: F
authors.lastname: Sironi
authors.forename: Sara
authors.initials: S
authors.lastname: Ricca
authors.forename: Ben A
authors.initials: BA
authors.lastname: Oostra
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Bonifati
authors.forename: Gianni
authors.initials: G
authors.lastname: Pezzoli
mesh_terms: D000328:Adult; D017668:Age of Onset; D003071:Cognition; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D007558:Italy / Q000453:epidemiology; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D019964:Mood Disorders / Q000453:epidemiology / Q000235:genetics; D009043:Motor Activity; D009483:Neuropsychological Tests; D010300:Parkinson Disease / Q000453:epidemiology* / Q000235:genetics*; D010641:Phenotype; D017354:Point Mutation; D015995:Prevalence; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
chemical_list: C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases