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Complete screening for glucocerebrosidase mutations in Parkinson disease patien...
Brás, José; Paisan-Ruiz, Coro; Guerreiro, Rita; Ribeiro, Maria Helena; Morgadinho, Ana; Januário, Cristina; Sidransky, Ellen; Oliveira, CatarinaMutations in the gene encoding beta-glucocerebrosidase, a lysosomal degrading enzyme, have recently been associated with the development of Parkinson disease. ; http://www.sciencedirect.com/science/article/B6T09-4RDB8NT-4/1/f950a1008e7a0869f9c1b72f485255a4
Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRK...
Brás, José; Guerreiro, Rita; Ribeiro, Maria; Morgadinho, Ana; Januario, Cristina; Dias, Margarida; Calado, Ana; Semedo, Cristina; Oliveira, CatarinaBackground: 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. Methods: Here, we follow up on those results, screening not only LRRK2, but also PRKN, SNCA and PINK1 in a cohort of early-onset and la...
Association of HFE common mutations with Parkinson's disease, Alzheimer's disea...
Guerreiro, Rita J.; Brás, José M.; Santana, Isabel; Januário, Cristina; Santiago, Beatriz; Morgadinho, Ana S.; Ribeiro, Maria H.; Hardy, JohnBackground: Pathological brain iron deposition has been implicated as a source of neurotoxic reactive oxygen species in Alzheimer (AD) and Parkinson diseases (PD). Iron metabolism is associated with the gene hemochromatosis (HFE Human genome nomenclature committee ID:4886), and mutations in HFE are a cause of the iron mismetabolism disease, hemochromatosis. Several reports have tested the association of HFE var...
G2019S dardarin substitution is a common cause of Parkinson's disease in a Port...
Brás, José Miguel; Guerreiro, Rita João; Ribeiro, Maria Helena; Januário, Cristina; Morgadinho, Ana; Oliveira, Catarina Resende; Cunha, LuísLRRK2 mutations have recently been described in families with Parkinson's disease. Here we show that one of them (G2019S) is present in 6% (7 of 124) unrelated cases of disease in a clinic-based sample series from central Portugal, but not present in 126 controls from the same population. Thus, LRRK2 mutations appear to be a common cause of typical Parkinson's disease and as such will alter clinical practice. ©...
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