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

Parkinsonism Relat Disord. 2006 Oct;12(7):410-9. doi: 10.1016/j.parkreldis.2006.04.001. Epub 2006 Jun 5.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age of Onset
  • Cognition
  • Female
  • Genetic Predisposition to Disease / epidemiology
  • Genetic Testing
  • Heterozygote
  • Humans
  • Italy / epidemiology
  • Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
  • Male
  • Middle Aged
  • Mood Disorders / epidemiology
  • Mood Disorders / genetics
  • Motor Activity
  • Neuropsychological Tests
  • Parkinson Disease / epidemiology*
  • Parkinson Disease / genetics*
  • Phenotype
  • Point Mutation*
  • Prevalence
  • Protein-Serine-Threonine Kinases / genetics*

Substances

  • LRRK2 protein, human
  • Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
  • Protein-Serine-Threonine Kinases