LRRK2 G2019S mutation and Parkinson's disease: a clinical, neuropsychological and neuropsychiatric study in a large Italian sample.
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.
Goldwurm
Stefano
S
Parkinson Institute, Istituti Clinici di Perfezionamento, Milan, Italy. goldwurm@parkinson.it
Zini
Michela
M
Di Fonzo
Alessio
A
De Gaspari
Danilo
D
Siri
Chiara
C
Simons
Erik J
EJ
van Doeselaar
Marina
M
Tesei
Silvana
S
Antonini
Angelo
A
Canesi
Margherita
M
Zecchinelli
Anna
A
Mariani
Claudio
C
Meucci
Nicoletta
N
Sacilotto
Giorgio
G
Cilia
Roberto
R
Isaias
Ioannis U
IU
Bonetti
A
A
Sironi
Francesca
F
Ricca
Sara
S
Oostra
Ben A
BA
Bonifati
Vincenzo
V
Pezzoli
Gianni
G
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*
C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases