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Prevalence of the LRRK2 G2019S mutation in a UK community based idiopathic Parkinson’s disease cohort

¹ Cambridge Centre for Brain Repair, Department of Clinical Neurosciences, University of Cambridge, UK
² Neurology Unit, Department of Clinical Neurosciences, University of Cambridge, UK
³ Laboratory for Clinical and Experimental Neurology, Katholieke Universiteit Leuven, Belgium

Correspondence to:
Correspondence to:
Dr C Williams-Gray
Cambridge Centre for Brain Repair, Department of Clinical Neurosciences, University of Cambridge, Forvie Site, Robinson Way, Cambridge CB2 2PY, UK; chm27{at}cam.ac.uk

ABSTRACT
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.

Abbreviations: 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

Keywords: LRRK2 gene; Parkinson’s disease; human genetics