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

doi:10.1016/j.parkreldis.2006.04.001

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Article

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

Parkinsonism & related disorders - 1 Oct 2006

Goldwurm Stefano, 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

Abstract excerpt

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...

Topics

Adult
Age of Onset
Cognition
Female
Genetic Predisposition to Disease
Genetic Testing
Heterozygote
Humans
Italy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Leucine-Rich Repeat Serine-Threonine Protein Kinase-2

Male

Middle Aged

Mood Disorders

Motor Activity

Neuropsychological Tests

Parkinson Disease

Phenotype

Point Mutation

Source

Open in PubMed

Identifiers

PMID: 16750929
DOI: 10.1016/j.parkreldis.2006.04.001

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-16750929-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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LRRK2 G2019S mutation and Parkinson's disease: a clinical, neuropsychological and neuropsychiatric study in a large Italian sample.PMID 16750929Read ↗

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