Article
Mutational analysis of GIGYF2, ATP13A2 and GBA genes in Brazilian patients with early-onset Parkinson's disease.
Neuroscience letters - 19 Nov 2010
Dos Santos Adriana Vaz, Pestana Cristiane Pinheiro, Diniz Karen Rafaella da Silva, Campos Mário, Abdalla-Carvalho Cláudia Bueno, de Rosso Ana Lúcia Zuma, Pereira João Santos, Nicaretta Denise Hack, de Carvalho William Luciano, Dos Santos Jussara Mendonça, Santos-Rebouças Cíntia Barros, Pimentel Márcia Mattos Gonçalves
Abstract excerpt
In the last decade, several genes have been linked to Parkinson's disease (PD), including GIGYF2, ATP13A2 and GBA. To explore whether mutations in these genes contribute to development of PD in the Brazilian population, we screened 110 patients with early-onset PD. No clearly pathogenic mutations were identified in ATP13A2 and GIGYF2. In contrast, we identified a significantly higher frequency of known pathogenic...
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