Published in
BMJ Publishing Group, Journal of Neurology, Neurosurgery and Psychiatry, 5(77), p. 665-667
Links
- ORCID
- BMJ Publishing Group
- [www.ncbi.nlm.nih.gov] | PDF
- [www.researchgate.net] | PDF
- [www.ncbi.nlm.nih.gov] | PDF
- [europepmc.org] | PDF
Tools
Prevalence of the LRRK2 G2019S mutation in a UK community based idiopathic Parkinson's disease cohort
,
A. Goris,
T. Foltynie,
J. Brown,
M. Maranian,
A. Walton,
D. A. S. Compston,
S. J. Sawcer,
R. A. Barker,
Barker Ra
Full text: Download
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.