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NOTCH3 variants and risk of ischemic stroke
Ross, Owen A.; Soto-Ortolaza, Alexandra I.; Heckman, Michael G.; Verbeeck, Christophe; Serie, Daniel J.; Rayaprolu, Sruti; Rich, Stephen S.Background: Mutations within the NOTCH3 gene cause cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). CADASIL mutations appear to be restricted to the first twenty-four exons, resulting in the gain or loss of a cysteine amino acid. The role of other exonic NOTCH3 variation not involving cysteine residues and mutations in exons 25-33 in ischemic stroke remains u...
Genetic Variability in CLU and Its Association with Alzheimer's Disease
Guerreiro, Rita J.; Beck, John; Gibbs, J. Raphael; Santana, Isabel; Rossor, Martin N.; Schott, Jonathan M.; Nalls, Michael A.; Ribeiro, HelenaRecently, two large genome wide association studies in Alzheimer disease (AD) have identified variants in three different genes (CLU, PICALM and CR1) as being associated with the risk of developing AD. The strongest association was reported for an intronic single nucleotide polymorphism (SNP) in CLU. To further characterize this association we have sequenced the coding region of this gene in a total of 495 AD c...
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...
TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis
Guerreiro, Rita; Schymick, Jennifer C.; Crews, Cynthia; Singleton, Andrew; Hardy, John; Traynor, Bryan J.Background: TAR DNA binding protein, encoded by TARDBP, was shown to be a central component of ubiquitin-positive, tau-negative inclusions in frontotemporal lobar degeneration (FTLD-U) and amyotrophic lateral sclerosis (ALS). Recently, mutations in TARDBP have been linked to familial and sporadic ALS. Methodology/Principal Findings: To further examine the frequency of mutations in TARDBP in sporadic ALS, 279 AL...
Analysis of Nigerians with apparently sporadic Parkinson disease for mutations ...
Okubadejo, Njideka; Britton, Angela; Crews, Cynthia; Akinyemi, Rufus; Hardy, John; Singleton, Andrew; Brás, JoséSeveral genetic variations have been associated with Parkinson disease in different populations over the past few years. Although a considerable number of worldwide populations have been screened for these variants, results from Sub-Saharan populations are very scarce in the literature. In the present report we have screened a cohort of Parkinson disease patients (n = 57) and healthy controls (n = 51) from Nige...
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; Januário, 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. ©...