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PMID: 19072560 Published · ppublish English Case Reports Letter Research Support, Non-U.S. Gov't Review

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

Genetic testing ·Vol. 12 ·No. 4 ·2008-12-00 ·Pages 471-3

Santos-Rebouças CB, Abdalla CB, Baldi FJ, Martins PA, Corrêa JC, Gonçalves AP, Cunha MS, Borges MB, Pereira JS, Laks J, Pimentel MM

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.

MeSH Terms
Aged Aged, 80 and over Alzheimer Disease/complications,genetics Brazil Humans Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 Male Parkinsonian Disorders/complications,genetics Point Mutation Protein Serine-Threonine Kinases/genetics
Chemicals
LRRK2 protein, human Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 Protein Serine-Threonine Kinases
Authors & Affiliations
11 authors, click to expand affiliations / ORCID
Santos-Rebouças Cíntia B
Abdalla Cláudia B
Baldi Fábio José R
Martins Paloma A
Corrêa Juliana C
Gonçalves Andressa P
Cunha Marcela S
Borges Margarete B
Pereira João S
Laks Jerson
Pimentel Márcia M G
Article Info
Journal
Genetic testing
Abbr.
Genet Test
ISSN
1090-6576
Published
2008-12-00
Pages
471-3
Language
English
Region
United States
NLM ID
9802546
Subset
IM
Analysis Services
Analysis Services

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