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.

G2019S mutation, LRRK2, Neuropsychological study, Park8, Parkinson
dx.doi.org/10.1016/j.parkreldis.2006.04.001, hdl.handle.net/1765/66593
Parkinsonism & Related Disorders
Department of Clinical Genetics

Goldwurm, S, Zini, A, Di Fonzo, A, de Gaspari, D, Siri, C, Simons, E.J, … Pezzoli, G. (2006). LRRK2 G2019S mutation and Parkinson's disease: A clinical, neuropsychological and neuropsychiatric study in a large Italian sample. Parkinsonism & Related Disorders, 12(7), 410–419. doi:10.1016/j.parkreldis.2006.04.001