The LRRK2 G2019S mutation is the commonest genetic cause of Parkinson’s disease (PD) identified to date, although estimates of its prevalence in idiopathic disease vary considerably. Our objectives were to determine G2019S mutation frequency in an unselected, community based cohort of idiopathic PD cases from the UK and to describe phenotypic characteristics among carriers. The mutation was present in two of 519 cases (0.4%) and none of 887 control individuals. The true prevalence of the mutation in idiopathic disease, its penetrance, and the phenotypic heterogeneity of associated cases have important implications for genetic screening in the clinical field.
- CANTAB, Cambridge Neuropsychological Test Automated Battery
- IPD, idiopathic Parkinson’s disease
- MMSE, Mini Mental State Examination
- PD, Parkinson’s disease
- UKPDS, United Kingdom Parkinson’s Disease Society
- UPDRS, Unified Parkinson’s Disease Rating Scale
- LRRK2 gene
- Parkinson’s disease
- human genetics
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Competing interests: none declared
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