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...
Importance: Depressive symptoms are associated with cognitive decline in older individuals. Uncertainty about underlying mechanisms hampers diagnostic and therapeutic efforts. This large-scale study aimed to elucidate the association between depressive symptoms and amyloid pathology. Objective: To examine the association between depressive symptoms and amyloid pathology and its dependency on age, sex, education...
Autologous hematopoietic stem cell transplantation (AHSCT) has been gaining prominence over the last 20 years in the context of autoimmune diseases, particularly multiple sclerosis. This procedure allows the eradication of the autoreactive immune system and its subsequent reconstitution from hematopoietic stem cells, constituting a process of “immune reinitiation” by diversifying the T-cell repertoire and resto...
Introduction: Ganglioglioma and dysembryoplastic neuroepithelial tumor represent the most common neoplasms in the group of long-term epilepsy-associated tumors. Mapping of epigenetic alterations, particularly DNA methylation, has recently been shown to offer promising perspectives in brain tumors, identifying key genes that may serve as potential diagnostic biomarkers. We aim to perform a genetic and epigenetic...
Myelitis is a rare neurological complication of COVID-19. We will describe a patient with post-COVID-19 myelitis manifesting as partial Brown-Séquard syndrome. A 33-year-old male presented with progressive weakness of the lower limbs, evolving over the previous week. Six weeks before, the patient had had COVID-19, from which he had already recovered. Neurological examination revealed right lower limb weakness a...
INTRODUCTION: Effective longitudinal biomarkers that track disease progression are needed to characterize the presymptomatic phase of genetic frontotemporal dementia (FTD). We investigate the utility of cerebral perfusion as one such biomarker in presymptomatic FTD mutation carriers. METHODS: We investigated longitudinal profiles of cerebral perfusion using arterial spin labeling magnetic resonance imaging in 4...
INTRODUCTION: We aimed to expand the range of the frontotemporal dementia (FTD) phenotypes assessed by the Clinical Dementia Rating Dementia Staging Instrument plus National Alzheimer's Coordinating Center Behavior and Language Domains (CDR plus NACC FTLD). METHODS: Neuropsychiatric and motor domains were added to the standard CDR plus NACC FTLD generating a new CDR plus NACC FTLD-NM scale. This was assessed in...
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...