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

Stefano Goldwurm, Michela Zini, Alessio Di Fonzo, Danilo De Gaspari, Chiara Siri, Erik J. Simons, Marina van Doeselaar, Silvana Tesei, Angelo Antonini, Margherita Canesi, Anna Zecchinelli, Claudio Mariani, Nicoletta Meucci, Giorgio Sacilotto, Roberto Cilia, Ioannis U. Isaias, A. Bonetti, Francesca Sironi, Sara Ricca, Ben A. OostraVincenzo Bonifati, Gianni Pezzoli

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)410-419
Number of pages10
JournalParkinsonism and Related Disorders
Volume12
Issue number7
DOIs
Publication statusPublished - Oct 2006

Keywords

  • G2019S mutation
  • LRRK2
  • Neuropsychological study
  • Park8
  • Parkinson

ASJC Scopus subject areas

  • Ageing
  • Clinical Neurology
  • Neurology

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    Goldwurm, S., Zini, M., Di Fonzo, A., De Gaspari, D., Siri, C., Simons, E. J., van Doeselaar, M., Tesei, S., Antonini, A., Canesi, M., Zecchinelli, A., Mariani, C., Meucci, N., Sacilotto, G., Cilia, R., Isaias, I. U., Bonetti, A., Sironi, F., Ricca, S., ... Pezzoli, G. (2006). LRRK2 G2019S mutation and Parkinson's disease: A clinical, neuropsychological and neuropsychiatric study in a large Italian sample. Parkinsonism and Related Disorders, 12(7), 410-419. https://doi.org/10.1016/j.parkreldis.2006.04.001