Autosomal dominant Parkinson’s disease: Incidence of mutations in LRRK2, SNCA, VPS35 and GBA genes in Brazil
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- 作者：Gabriella de M. Abreua ; 1 ; Dé ; bora Cristina T. Valenç ; aa ; 1 ; Má ; rio Campos Jú ; niorb ; Camilla P. da Silvaa ; Joã ; o S. Pereirac ; Marco A. Araujo Leited ; Ana Lucia Rossoe ; Denise H. Nicarettaf ; Luiz Felipe R. Vasconcellosg ; h ; Delson José ; da Silvai ; j ; Marcus V. Della Colettak ; Jussara M. dos Santosa ; Andressa P. Gonç ; alvesa ; Cí ; ntia B. Santos-Rebouç ; asa ; Má ; rcia M.G. Pimentela ; pimentel@uerj.br" class="auth_mail" title="E-mail the corresponding author ; marcia.pimentel@pq.cnpq.br" class="auth_mail" title="E-mail the corresponding author
- 关键词：Parkinson&rsquo ; s disease ; Autosomal dominant Parkinson&rsquo ; s disease ; LRRK2 ; SNCA ; VPS35 ; GBA
- 刊名：Neuroscience Letters
- 出版年：2016
- 出版时间：2 December 2016
- 年：2016
- 卷：635
- 期：Complete
- 页码：67-70
- 全文大小：370 K
文摘
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This is the first molecular study in Brazilian index cases from families with ADPD.
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We screened specific mutations in LRRK2, SNCA, VPS35 and GBA genes.
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Heterozygous mutations in LRRK2 and GBA genes were found in 7.0% of the index cases.
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Our data reveal a substantial contribution of LRRK2 and GBA mutations to PD in Brazil.
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Our findings show that VPS35 and SNCA mutations are uncommon causes of PD in Brazil.