Ontology highlight
ABSTRACT:
SUBMITTER: Bras J
PROVIDER: S-EPMC2248204 | biostudies-literature | 2008 Jan
REPOSITORIES: biostudies-literature
Bras Jose J Guerreiro Rita R Ribeiro Maria M Morgadinho Ana A Januario Cristina C Dias Margarida M Calado Ana A Semedo Cristina C Oliveira Catarina C Hardy John J Singleton Andrew A
BMC neurology 20080122
<h4>Background</h4>Mutations in the genes PRKN and LRRK2 are the most frequent known genetic lesions among Parkinson's disease patients. We have previously reported that in the Portuguese population the LRRK2 c.6055G > A; p.G2019S mutation has one of the highest frequencies in Europe.<h4>Methods</h4>Here, we follow up on those results, screening not only LRRK2, but also PRKN, SNCA and PINK1 in a cohort of early-onset and late-onset familial Portuguese Parkinson disease patients. This series comp ...[more]