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Mitochondrial-dependent apoptosis in Huntington's disease human cybrids
Ferreira, IL; Nascimento, MV; Ribeiro, MH; Almeida, S; Cardoso, SM; Grazina, M; Pratas, J; Santos, MJ; Januário, C; Oliveira, CR; Rego, ACWe investigated the involvement of mitochondrial-dependent apoptosis in Huntington's disease (HD) vs. control (CTR) cybrids, obtained from the fusion of human platelets with mitochondrial DNA-depleted NT2 cells, and further exposed to 3-nitropropionic acid (3-NP) or staurosporine (STS). Untreated HD cybrids did not exhibit significant modifications in the activity of mitochondrial respiratory chain complexes I-...
Complete screening for glucocerebrosidase mutations in Parkinson disease patien...
Brás, JM; Paisan-Ruiz, C; Guerreiro, C; Ribeiro, MH; Morgadinho, A; Januário, C; Sidransky, E; Oliveira, CR; Singleton, AMutations in the gene encoding beta-glucocerebrosidase, a lysosomal degrading enzyme, have recently been associated with the development of Parkinson disease. Here we report the results found in a cohort of Portuguese Parkinson disease patients and healthy age-matched controls for mutations in the aforementioned gene. This screening was accomplished by sequencing the complete open-reading frame, as well as intr...
Diagnostic value of CSF protein profile in a Portuguese population of sCJD pati...
Baldeiras, IE; Ribeiro, MH; Pacheco, P; Machado, A; Santana, I; Cunha, L; Oliveira, CRThe clinical diagnosis of sporadic Creutzfeldt-Jakob disease (sCJD) is difficult, and reliable markers are highly desired. In this work we assess the value of several cerebrospinal fluid (CSF) markers for sCJD diagnosis. Within the framework of the Portuguese Epidemiological Surveillance Program for Human Prion Diseases, CSF samples from 71 patients with clinically suspected sCJD, 30 definite sCJD and 41 non-CJ...
Diagnostic value of CSF protein profile in a Portuguese population of sCJD pati...
Baldeiras, IE; Ribeiro, MH; Pacheco, P; Machado, A; Santana, I; Cunha, L; Oliveira, CRThe clinical diagnosis of sporadic Creutzfeldt-Jakob disease (sCJD) is difficult, and reliable markers are highly desired. In this work we assess the value of several cerebrospinal fluid (CSF) markers for sCJD diagnosis. Within the framework of the Portuguese Epidemiological Surveillance Program for Human Prion Diseases, CSF samples from 71 patients with clinically suspected sCJD, 30 definite sCJD and 41 non-CJ...
Diagnostic value of CSF protein profile in a Portuguese population of sCJD pati...
Baldeiras, IE; Ribeiro, MH; Pacheco, P; Machado, A; Santana, I; Cunha, L; Oliveira, CRThe clinical diagnosis of sporadic Creutzfeldt-Jakob disease (sCJD) is difficult, and reliable markers are highly desired. In this work we assess the value of several cerebrospinal fluid (CSF) markers for sCJD diagnosis. Within the framework of the Portuguese Epidemiological Surveillance Program for Human Prion Diseases, CSF samples from 71 patients with clinically suspected sCJD, 30 definite sCJD and 41 non-CJ...
Association of HFE common mutations with Parkinson's disease, Alzheimer's disea...
Guerreiro, RJ; Brás, JM; Santana, I; Januário, C; Morgadinho, A; Ribeiro, MH; Hardy, J; Singleton, A; Oliveira, CRBACKGROUND: 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, JM; Guerreiro, RJ; Ribeiro, MH; Januário, C; Morgadinho, A; Oliveira, CR; Hardy, J; Singleton, ALRRK2 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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