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

• Autor(a) principal: Chien,Hsin Fen
• Data de Publicação: 2014
• Outros Autores: Figueiredo,Tamires Rocha, Hollaender,Marianna Almeida, Tofoli,Fabiano, Takada,Leonel Takao, Pereira,Lygia da Veiga, Barbosa,Egberto Reis
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Arquivos de neuro-psiquiatria (Online)
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2014000500356
• topic: Parkinson's disease; LRRK2; genetics

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.