38 documents found, page 1 of 4
PHACTR1 genetic variability is not critical in small vessel ischemic disease pa...
Messerschmidt, C; Foddis, M; Blumenau, S; Müller, S; Bentele, K; Holtgrewe, M; Kun-Rodrigues, C; Alonso, I; Carmo Macario, M; Morgadinho, AS; Velon, AGRecently, several genome-wide association studies identified PHACTR1 as key locus for five diverse vascular disorders: coronary artery disease, migraine, fibromuscular dysplasia, cervical artery dissection and hypertension. Although these represent significant risk factors or comorbidities for ischemic stroke, PHACTR1 role in brain small vessel ischemic disease and ischemic stroke most important survival mechan...
Pathophysiology of Blood–Brain Barrier Permeability Throughout the Different St...
Bernardo-Castro, S; Sousa, JA; Brás, A; Cecília, C; Rodrigues, B; Almendra, L; Machado, C; Santo, G; Silva, F; Ferreira, L; Santana, IThe blood-brain barrier (BBB) is a dynamic interface responsible for maintaining the central nervous system homeostasis. Its unique characteristics allow protecting the brain from unwanted compounds, but its impairment is involved in a vast number of pathological conditions. Disruption of the BBB and increase in its permeability are key in the development of several neurological diseases and have been extensive...
Erlangen Score as a tool to predict progression from mild cognitive impairment ...
Baldeiras, I; Santana, I; Leitão, MJ; Vieira, D; Duro, D; Mroczko, B; Kornhuber, J; Lewczuk, PBACKGROUND: The previously described and validated Erlangen Score (ES) algorithm enables interpretation of the cerebrospinal fluid (CSF) biomarkers of Alzheimer's disease (AD), ordering them on an ordinal scale: from neurochemically normal (ES = 0) through improbable AD (ES = 1), possible AD (ES = 2 or 3), to probable AD (ES = 4). Here we assess the accuracy of the ES in predicting hazards of progression from t...
The inner fluctuations of the brain in presymptomatic Frontotemporal Dementia: ...
Premi, E; Calhoun, VD; Diano, M; Gazzina, S; Cosseddu, M; Alberici, A; Archetti, S; Paternicò, D; Gasparotti, R; van Swieten, J; Galimberti, DFrontotemporal Dementia (FTD) is preceded by a long period of subtle brain changes, occurring in the absence of overt cognitive symptoms, that need to be still fully characterized. Dynamic network analysis based on resting-state magnetic resonance imaging (rs-fMRI) is a potentially powerful tool for the study of preclinical FTD. In the present study, we employed a "chronnectome" approach (recurring, time-varyin...
A comprehensive screening of copy number variability in dementia with Lewy bodies
Kun-Rodrigues, C; Orme, T; Carmona, S; Hernandez, DG; Ross, OA; Eicher, JD; Shepherd, C; Parkkinen, L; Darwent, L; Heckman, MG; Scholz, SW; Troncoso, JCThe role of genetic variability in dementia with Lewy bodies (DLB) is now indisputable; however, data regarding copy number variation (CNV) in this disease has been lacking. Here, we used whole-genome genotyping of 1454 DLB cases and 1525 controls to assess copy number variability. We used 2 algorithms to confidently detect CNVs, performed a case-control association analysis, screened for candidate CNVs previou...
Association between Adipokines and Biomarkers of Alzheimer's Disease: A Cross-S...
Letra, L; Matafome, P; Rodrigues, T; Duro, D; Lemos, R; Baldeiras, I; Patrício, M; Castelo-Branco, M; Caetano, G; Seiça, R; Santana, IBACKGROUND: Adipose tissue dysfunction has been implicated in the pathophysiology of Alzheimer's disease. However, the involvement of adipokines, particularly adiponectin, remains unclear. OBJECTIVE: To compare serum and cerebrospinal fluid (CSF) levels of adiponectin, leptin and leptin-to-adiponectin ratio in patients within the spectrum of Alzheimer's disease and evaluate their relationship with classical bio...
Increased risk of melanoma in C9ORF72 repeat expansion carriers: A case-control...
Tábuas-Pereira, M; Almendra, L; Almeida, MR; Durães, J; Pinho, AR; Matos, A; Negrão, L; Geraldo, A; Santana, IINTRODUCTION: Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are considered part of the same pathological spectrum. There is an increased risk of ALS in patients who have had melanoma. The risk of FTLD in melanoma (or cancer) patients is unknown. We aimed to study if C9ORF72 expansion is linked to a higher prevalence of melanoma. METHODS: We selected patients with a diagnosis i...
The neural basis of fatigue in multiple sclerosis: A multimodal MRI approach
Novo, AM; Batista, S; Alves, C; d'Almeida, OC; Marques, IB; Macário, C; Santana, I; Sousa, L; Castelo-Branco, M; Cunha, LBACKGROUND: Fatigue is a frequent disabling symptom in multiple sclerosis (MS), but its pathophysiology remains incompletely understood. This study aimed to explore the underlying neural basis of fatigue in patients with MS. METHODS: We enrolled 60 consecutive patients with MS and 60 healthy controls (HC) matched on age, sex, and education. Fatigue was assessed using the Portuguese version of the Modified Fatig...
Adenosine Deaminase Two and Immunoglobulin M Accurately Differentiate Adult Sne...
Santo, GC; Baldeiras, I; Guerreiro, R; Ribeiro, JA; Cunha, R; Youngstein, T; Nanthapisal, S; Leitão, J; Fernandes, C; Caramelo, F; Almeida, MR; Brás, JBACKGROUND: The association that exists between livedo reticularis (LR) and stroke is known as Sneddon's syndrome (SnS). The disorder is classified as primary SnS (PSnS), if the cause remains unknown and secondary SnS. The condition is rare and it occurs mainly sporadically. In 2014, 2 independent teams described a new genetic disorder with childhood-onset, which was called deficiency of adenosine deaminase 2 (...
Quantitative Genetics Validates Previous Genetic Variants and Identifies Novel ...
Ramos de Matos, M; Ferreira, C; Herukka, SK; Soininen, H; Janeiro, A; Santana, I; Baldeiras, I; Almeida, MR; Lleó, A; Dols-Icardo, O; Alcolea, DCerebrospinal fluid (CSF) biomarkers have been extensively investigated in the Alzheimer's disease (AD) field, and are now being applied in clinical practice. CSF amyloid-beta (Aβ1-42), total tau (t-tau), and phosphorylated tau (p-tau) reflect disease pathology, and may be used as quantitative traits for genetic analyses, fostering the identification of new genetic factors and the proposal of novel biological p...