Andreia Bettencourt

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BACKGROUND High iron concentrations have been reported in oligodendrocytes, myelin and macrophages in multiple sclerosis (MS) lesions. It has been proposed that HFE gene polymorphisms could have a role in MS. METHODS The C282Y and H63D HFE variants frequencies were determined in 373 patients with MS and compared with a normal population. RESULTS No(More)
The impact of Behçet's disease on higher cognitive functions is still poorly understood. We proposed (1) to characterize the neuropsychological profile of Behçet's disease patients with (Neuro-BD) and without (BD) neurological manifestations; (2) to identify which clinical, psychopathological, and genetic variables are related to neuropsychological(More)
BACKGROUND The association between susceptibility to multiple sclerosis (MS) and HLA-DRB1*15 has been reported in various European populations. OBJECTIVE To investigate the relationship between MS, HLA-DRB1*15 and other DRB1 alleles in a Portuguese population and their association with clinical course of MS. METHODS The HLA-DRB1 alleles were analyzed by(More)
Killer Immunoglobulin-like Receptor (KIR) genes may influence both resistance and susceptibility to different autoimmune diseases, but their role in the pathogenesis of Multiple Sclerosis (MS) is still unclear. We investigated the influence of KIR genes on MS susceptibility in 447 MS Portuguese patients, and also whether genetic interactions between(More)
PURPOSE Mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS) is the most frequent pharmaco-resistant epilepsy. It has been associated with febrile seizures (FS) in childhood. Its aetiology remains unclear but genetic factors are involved. Apolipoprotein E (ApoE) is the main lipoprotein secreted in brain. It has a critical immunomodulatory(More)
Vitamin D status in human populations has become a matter of great concern, in the wake of a multitude of published works that document widespread vitamin D deficiency across Europe, even in countries with abundant sunlight. In Portugal there are no measures of 25-hydroxyvitamin D - 25(OH)D - levels in the general adult population. The purpose of this study(More)
Autoimmune diseases (AIDs) are characterized by a multifactorial aetiology and a complex genetic background, with the MHC region playing a major role. We genotyped for HLA-DRB1 locus 1228 patients with AIDs-213 with Systemic Lupus Erythematosus (SLE), 166 with Psoriasis or Psoriatic Arthritis (Ps + PsA), 153 with Rheumatoid Arthritis (RA), 67 with Systemic(More)
INTRODUCTION The obstructive sleep apnoea syndrome (OSAS) is a common, complex and polygenic disease with diverse aetiologies interacting to produce a single phenotype. OSAS occurs throughout the entire lifespan and familial aggregation has been suggested. Several predisposing factors, as age, gender and obesity have been described. Associations between HLA(More)
INTRODUCTION Behçet's disease (BD) is a multisystem inflammatory disease of unknown etiology that may affect the CNS - Neuro-Behçet (NB). Our aim was to evaluate the frequency of neurological involvement and characterize a cohort of our NB patients. METHODS We retrospectively revised the clinical, laboratory and imaging data of a cohort of BD patients,(More)
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