Introduction: Blood-based neurofilament light chain (NfL), a neuronal cytoskeleton protein, has proven to be a dynamic and robust biomarker for neurodegeneration. The influence of age on NfL levels has been extensively documented in cerebrospinal fluid studies, with blood quantification showing similar trends. To aid the clinical interpretation of NfL values, it is crucial to establish normal reference interval...
While human longevity has increased significantly over the last 2 centuries, the time spent in good physical and cognitive health has not risen proportionately. The incidence of Alzheimer’s disease (AD) increases with age, but parental longevity is often associated with better offspring health and lower AD risk. This study aimed to investigate the relationship between parental longevity and AD. We included pati...
Introduction: Neurodegenerative disorders, such as Alzheimer’s disease (AD) and frontotemporal dementia (bvFTD), reflect a spectrum of cognitive impairments unified by cognitive decline. Traditional diagnostic approaches often overlook shared landscapes of these disorders. A transdiagnostic approach, cutting across conventional boundaries, may improve understanding of shared mechanisms. This study uses lesion-s...
Alzheimer’s disease (AD) heritability is estimated to be around 70–80%. Yet, much of it remains to be explained. Studying transmission patterns may help in understanding other factors contributing to the development of AD. In this study, we aimed to search for evidence of autosomal recessive or X- and Y-linked inheritance of risk factors in a large cohort of Portuguese AD patients. We collected family history f...
Background: Cerebral Small Vessels Disease (CSVD) is categorized in different forms, the most common being the sporadic form and a genetic variant – Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL). Amongst the most frequent clinical manifestations are the neuropsychological changes of cognitive, behavioral, and emotional nature, whose features are still under...
The existence of a selective blood-brain barrier (BBB) and neurovascular coupling are two unique central nervous system vasculature features that result in an intimate relationship between neurons, glia, and blood vessels. This leads to a significant pathophysiological overlap between neurodegenerative and cerebrovascular diseases. Alzheimer's disease (AD) is the most prevalent neurodegenerative disease whose p...
Maternal obesity (MO) is rising worldwide, affecting half of all gestations, constituting a possible risk-factor for some pregnancy-associated liver diseases (PALD) and hepatic diseases. PALD occur in approximately 3% of pregnancies and are characterized by maternal hepatic oxidative stress (OS) and mitochondrial dysfunction. Maternal hepatic disease increases maternal and fetal morbidity and mortality. Underst...
Background: Lipocalin-2 is a glycoprotein that is involved in various physiological and pathophysiological processes. In the brain, it is expressed in response to vascular and other brain injury, as well as in Alzheimer’s disease in reactive microglia and astrocytes. Plasma Lipocalin-2 has been proposed as a biomarker for Alzheimer’s disease but available data is scarce and inconsistent. Thus, we evaluated plas...
Multiple sclerosis is an inflammatory and degenerative disease of the central nervous system (CNS) characterized by demyelination and concomitant axonal loss. The lack of a single specific test, and the similarity to other inflammatory diseases of the central nervous system, makes it difficult to have a clear diagnosis of multiple sclerosis. Therefore, laboratory tests that allows a clear and definite diagnosis...
Poor maternal nutrition in pregnancy affects fetal development, predisposing offspring to cardiometabolic diseases. The role of mitochondria during fetal development on later-life cardiac dysfunction caused by maternal nutrient reduction (MNR) remains unexplored. We hypothesized that MNR during gestation causes fetal cardiac bioenergetic deficits, compromising cardiac mitochondrial metabolism and reserve capaci...