Literature DB >> 19072560

Co-occurrence of sporadic parkinsonism and late-onset Alzheimer's disease in a Brazilian male with the LRRK2 p.G2019S mutation.

Cíntia B Santos-Rebouças, Cláudia B Abdalla, Fábio José R Baldi, Paloma A Martins, Juliana C Corrêa, Andressa P Gonçalves, Marcela S Cunha, Margarete B Borges, João S Pereira, Jerson Laks, Márcia M G Pimentel.   

Abstract

Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene represent the most common known genetic cause of inherited and idiopathic Parkinson's disease (PD) in different populations. The predicted multifunctionality of LRRK2 product and the pleomorphic pathology associated with LRRK2 mutations place this gene as a potential candidate for other neurodegenerative disorders, mainly Alzheimer's disease (AD). We report a Brazilian male expressing both late-onset AD and slowly progressive parkinsonism signs, and who presented the most frequent LRRK2 mutation (p.G2019S). Although the co-occurrence of PD and AD would be expected occasionally, the shared mechanisms between the two complex disorders are still unclear and are discussed herein. In light of recent findings about the wide role of LRRK2 under normal and pathological conditions, it is tempting to speculate that LRRK2 mutations might play an upstream influence on the etiology of not just PD but also several alpha-synuclein and tau pathologies, including AD.

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Year:  2008        PMID: 19072560     DOI: 10.1089/gte.2008.0042

Source DB:  PubMed          Journal:  Genet Test        ISSN: 1090-6576


  5 in total

1.  LRRK2 G2019S mutation: frequency and haplotype data in South African Parkinson's disease patients.

Authors:  Soraya Bardien; Angelica Marsberg; Rowena Keyser; Debbie Lombard; Suzanne Lesage; Alexis Brice; Jonathan Carr
Journal:  J Neural Transm (Vienna)       Date:  2010-06-11       Impact factor: 3.575

2.  Association of Parkinson's Disease GWAS-Linked Loci with Alzheimer's Disease in Han Chinese.

Authors:  Xi-Chen Zhu; Lei Cao; Meng-Shan Tan; Teng Jiang; Hui-Fu Wang; Huan Lu; Chen-Chen Tan; Wei Zhang; Lan Tan; Jin-Tai Yu
Journal:  Mol Neurobiol       Date:  2016-01-06       Impact factor: 5.590

3.  Phenotype in parkinsonian and nonparkinsonian LRRK2 G2019S mutation carriers.

Authors:  C Marras; B Schüle; B Schuele; R P Munhoz; E Rogaeva; J W Langston; M Kasten; C Meaney; C Klein; P M Wadia; S-Y Lim; R S-I Chuang; C Zadikof; T Steeves; K M Prakash; R M A de Bie; G Adeli; T Thomsen; K K Johansen; H A Teive; A Asante; W Reginold; A E Lang
Journal:  Neurology       Date:  2011-07-13       Impact factor: 9.910

Review 4.  Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update.

Authors:  Karen Nuytemans; Jessie Theuns; Marc Cruts; Christine Van Broeckhoven
Journal:  Hum Mutat       Date:  2010-07       Impact factor: 4.878

Review 5.  The role of the LRRK2 gene in Parkinsonism.

Authors:  Jie-Qiong Li; Lan Tan; Jin-Tai Yu
Journal:  Mol Neurodegener       Date:  2014-11-12       Impact factor: 14.195

  5 in total

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