Enrichment of plasma-derived extracellular vesicles from astrocytes Extracellular vesicles (EVs) are nanoparticles that are secreted by all cells in the body. EVs carries multiple cellular components, such as genetic material, proteins and lipid metabolites that often reflect the content of their cell of origin. They are involved in a wide range of functions by acting … Read more
Myelin loss in C9orf72 hexanucleotide expansion carriers The expansion of the intronic GGGGCC repeat (G4C2) in the C9orf72 gene is the most common genetic cause of Frontotemporal Dementia (FTD), Amyotrophic Lateral Sclerosis (ALS) and in the continuum of FTD/ALS. Three pathological mechanisms associated with the presence of this genetic alteration have been described: a … Read more
The link between Alzheimer’s disease and Down syndrome People with Down syndrome are genetically predisposed to developing Alzheimer´s disease. The strong association between Alzheimer disease and Down syndrome has a genetic basis through a gene-dose effect of the amyloid precursor protein (APP) gene located on chromosome 21, which is triplicated in this population. Consequently, neuropathologic changes associated with … Read more
MRI and tauopathies Progressive supranuclear palsy (PSP) and Corticobasal Degeneration (CBD) are two subtypes of Frontotemporal Lobular Degeneration characterized by cerebral accumulation of tau protein (tauopathies). These diseases present classically with motor symptoms that include postural instability, difficulty in ocular movements, and limb control. However, in recent years it has been shown that they can … Read more
Multimarker panels in FTD Frontotemporal dementia is the most common cause of early-onset dementia and the principal cause of FrontoTemporal Lobular Degeneration (FTLD). Approximately, 90–95% of FTLD cases are characterized by the accumulation in the brain of two different proteins – tau and transactive response DNA-binding protein-43 (TDP-43). These protein inclusions lead to a loss of … Read more
Alzheimer’s disease and its biomarkers in CSF Alzheimer’s disease is a chronic neurodegenerative disorder considered the most common cause of dementia in older people. Although clinical symptoms still form the core of diagnosis, imaging and cerebrospinal fluid biomarkers now play an important role in the diagnostic process. Two important neuropathological features of Alzheimer’s are the … Read more