Frequency of the LRRK2 G2019S mutation in late-onset sporadic patients with Parkinson's disease

Mutations in the LRRK2 gene, predominantly G2019S, have been reported in individuals with autosomal dominant inheritance and sporadic Parkinson's disease (PD). The G2019S mutation has an age-dependent penetrance and evidence shows common ancestry. The clinical manifestations are indistinguishab...

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Bibliographic Details
Published in:	Arquivos de neuro-psiquiatria Vol. 72; no. 5; pp. 356 - 359
Main Authors:	Chien, Hsin Fen, Figueiredo, Tamires Rocha, Hollaender, Marianna Almeida, Tofoli, Fabiano, Takada, Leonel Takao, Pereira, Lygia da Veiga, Barbosa, Egberto Reis
Format:	Journal Article
Language:	English
Published:	Brazil Academia Brasileira de Neurologia - ABNEURO 01-05-2014 Academia Brasileira de Neurologia (ABNEURO)
Subjects:	Age Factors Age of Onset Aged Aged, 80 and over Brazil Case-Control Studies doença de Parkinson Female genética Humans Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 LRRK2 Male Middle Aged Mutation Rate NEUROSCIENCES Parkinson Disease - ethnology Parkinson Disease - genetics Polymerase Chain Reaction Protein-Serine-Threonine Kinases - genetics PSYCHIATRY genética Parkinson's disease genetics doença de Parkinson LRRK2
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Summary:	Mutations in the LRRK2 gene, predominantly G2019S, have been reported in individuals with autosomal dominant inheritance and sporadic Parkinson's disease (PD). The G2019S mutation has an age-dependent penetrance and evidence shows common ancestry. The clinical manifestations are indistinguishable from idiopathic PD. Its prevalence varies according to the population studied ranging from less than 0.1% in Asians to 41% in North African Arabs. This study aimed to identify G2019S mutation in Brazilian idiopathic PD patients. We sampled 100 PD patients and 100 age- and gender-matched controls. Genetical analysis was accomplished by polymerase chain reaction (PCR). No G2019S mutations were found in both patients with sporadic PD and controls. Our results may be explained by the relatively small sample size.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0004-282X 1678-4227 1678-4227 0004-282X
DOI:	10.1590/0004-282X20140019