4 documents found, page 1 of 1
Prognosis of Early-Onset vs. Late-Onset Mild Cognitive Impairment: Comparison o...
Tábuas-Pereira, Miguel; Baldeiras, Inês; Duro, Diana; Santiago, Beatriz; Ribeiro, Maria Helena; Leitão, Maria João; Oliveira, Catarina; Santana, IsabelDespite having the same histopathological characteristics, early-onset and late-onset Alzheimer’s disease (AD) patients show some distinct clinical and neuropsychological profiles. Early Onset Mild Cognitive Impairment (EOMCI) is a less characterized group. The aim of this study is to characterize MCI probably due to AD in terms of the clinical, genetic, Cerebrospinal fluid (CSF) biomarkers profile and conversi...
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. ©...