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

Author:

Chien Hsin Fen1,Figueiredo Tamires Rocha1,Hollaender Marianna Almeida1,Tofoli Fabiano1,Takada Leonel Takao1,Pereira Lygia da Veiga1,Barbosa Egberto Reis1

Affiliation:

1. Universidade de São Paulo, Brazil

Abstract

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.Method:We sampled 100 PD patients and 100 age- and gender-matched controls. Genetical analysis was accomplished by polymerase chain reaction (PCR).Results:No G2019S mutations were found in both patients with sporadic PD and controls.Conclusions:Our results may be explained by the relatively small sample size.

Publisher

FapUNIFESP (SciELO)

Subject

Neurology,Clinical Neurology

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