A study of LRRK2 mutations and Parkinson's disease in Brazil

Neuroscience Letters
Márcia Mattos Gonçalves PimentelCíntia Barros Santos-Rebouças

Abstract

Mutations in the Leucine-rich repeat kinase 2 (LRRK2) gene are known as a common cause of Parkinson's disease (PD) among patients from different geographic origins. In this study, we evaluated the prevalence of LRRK2 mutations in exons 31 and 41 in a cohort of 154 consecutive, unrelated Brazilian patients with familial or sporadic PD, including early and late onset patients. The LRRK2 p.G2019S mutation was present in heterozygous state in three index cases (approximately 2%), and in three additional relatives. No carriers of this mutation were found among 250 control chromosomes. Clinically, all mutation-positive patients presented a typical PD phenotype and a good response to levodopa. Mutation segregation analysis in a large sibling showed incomplete penetrance of the p.G2019S. Our findings suggest that the LRRK2 p.G2019S mutation has a substantial contribution to PD susceptibility among Brazilian population and add new clues to current research of this disease.

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Citations

Sep 17, 2009·Journal of Neural Transmission·Avner ThalerNir Giladi
May 7, 2010·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·C B Abdalla-CarvalhoM M G Pimentel
Nov 1, 2013·BioMed Research International·Michele L GregórioDorotéia R S Souza
Jun 30, 2009·Movement Disorders : Official Journal of the Movement Disorder Society·Clecio Godeiro-JuniorHenrique Ballalai Ferraz
Jul 23, 2009·Arquivos de neuro-psiquiatria·Antonio Luiz dos Santos WerneckMaurice Borges Vincent
Jul 4, 2013·Journal of the Science of Food and Agriculture·L Filippo D'Antuono, Manuela Agata Manco
Dec 17, 2008·The FEBS Journal·Vasanti S AnandSteven P Braithwaite
Aug 24, 2021·Frontiers in Neurology·Gabriel Torrealba-AcostaJaime Fornaguera-Trías
Sep 2, 2021·Arquivos de neuro-psiquiatria·Bruno L Santos-LobatoVitor Tumas

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