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...
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: Plasma biomarkers reflecting the pathology of frontotemporal dementia would add significant value to clinical practice, to the design and implementation of treatment trials as well as our understanding of disease mechanisms. The aim of this study was to explore the levels of multiple plasma proteins in individuals from families with genetic frontotemporal dementia. Methods: Blood samples from 693 pa...
The distinction between sporadic and genetic behavioural-variant frontotemporal dementia (bvFTD) regarding some neuropsychological (NP) features remains challenging. Specifically, progranulin (GRN)-associated bvFTD frequently presents with early episodic memory impairment and some degree of parietal dysfunction which are supporters of Alzheimer's disease (AD) diagnosis. In this context, we aimed to characterize...
Patients diagnosed with amnestic mild cognitive impairment (aMCI) are at high risk of progressing to dementia. It became possible, through the use of biomarkers, to diagnose those patients with aMCI who have Alzheimer's disease. However, it is presently unfeasible that all patients undergo biomarker testing. Since neuropsychological testing is required to make a formal diagnosis of aMCI, it would be interesting...
Frontotemporal lobar degeneration, the neuropathological substrate of frontotemporal dementia (FTD), is characterized by the deposition of protein aggregates, including tau. Evidence has shown concomitant amyloid pathology in some of these patients, which seems to contribute to a more aggressive disease. Our aim was to evaluate cerebrospinal fluid (CSF) amyloid-beta as a predictor of the mortality of FTD patien...
Background: The use of biomarkers, in particular amyloid-beta (A(beta) changes, has allowed the possibility to identify patients with subjective memory complaints (SMCs) and amnestic mild cognitive impairment (aMCI) who suffer from Alzheimer's disease (AD). Since it is unfeasible that all patients with aMCI could presently undergo biomarkers assessment, it would be important that SMCs might contribute to identi...