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

Journal of Neurology, Neurosurgery, and Psychiatry
C H Williams-GrayR A Barker

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.

References

Dec 24, 2003·Brain : a Journal of Neurology·Thomas FoltynieRoger A Barker
Nov 16, 2004·Neuron·Coro Paisán-RuízAndrew B Singleton
Feb 1, 2005·Lancet·Alessio Di FonzoUNKNOWN Italian Parkinson Genetics Network
Feb 1, 2005·Lancet·William P GilksNicholas W Wood
Apr 27, 2005·Annals of Neurology·Jan O AaslyMatthew Farrer
Aug 24, 2005·Neuroscience Letters·Monika BialeckaMarek Drozdzik
Sep 9, 2005·Movement Disorders : Official Journal of the Movement Disorder Society·Jose Miguel BrasAndrew Singleton
Sep 15, 2005·Neurology·M FarrerD M Maraganore
Oct 22, 2005·Annals of Neurology·Suzanne LesageUNKNOWN French Parkinson's Disease Genetics Study Group
Oct 27, 2005·Movement Disorders : Official Journal of the Movement Disorder Society·Denise M KayHaydeh Payami
Oct 28, 2005·Brain : a Journal of Neurology·Daniela BergThomas Gasser

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Citations

Mar 25, 2009·Journal of Neurology·Caroline H Williams-GrayRoger A Barker
Sep 17, 2009·Journal of Neural Transmission·Avner ThalerNir Giladi
Jun 28, 2011·Genetic Testing and Molecular Biomarkers·Doaa I HashadMarwa A Saad
Feb 16, 2013·Brain : a Journal of Neurology·Sophie E Winder-RhodesRoger A Barker
Sep 21, 2007·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·K KalinderiA Kotsis
Dec 13, 2006·Expert Opinion on Investigational Drugs·Roberto ScatenaBruno Giardina
Dec 1, 2009·Parkinsonism & Related Disorders·L Correia GuedesC Sampaio
May 28, 2009·Human Mutation·Coro Paisán-Ruiz
Nov 26, 2008·Journal of Neuroscience Research·Payal N GandhiAmy L Wilson-Delfosse
Aug 9, 2007·Annals of Neurology·An GorisStephen J Sawcer
Jun 1, 2016·Frontiers in Psychiatry·Lucy M Collins, Caroline H Williams-Gray
Jul 22, 2019·Brain : a Journal of Neurology·Manuela M X TanHuw R Morris
Jan 13, 2021·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·David J Brooks

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