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Genetic screening of Alzheimer's disease genes in Iberian and African samples y...
Guerreiro, Rita João; Baquero, Miquel; Blesa, Rafael; Boada, Mercè; Brás, José Miguel; Bullido, Maria. J.; Calado, Ana; Crook, Richard; Ferreira, CarlaMutations in three genes (PSEN1, PSEN2, and APP) have been identified in patients with early-onset (<65years) Alzheimer’s disease (AD). We performed a screening for mutations in the coding regions of presenilins, as well as exons 16 and 17 of the APP gene in a total of 231 patients from the Iberian peninsular with a clinical diagnosis of early onset AD (mean age at onset of 52.9 years; range 31– 64). We found t...
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
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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