Myelin loss in C9orf72 hexanucleotide expansion carriers

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

Association of Alzheimer Disease With Life Expectancy in People With Down Syndrome

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

Assessing the value of MRI for the diagnosis of tauopathies

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 synaptic panels for FTD

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

Stability of Alzheimer biomarkers in CSF

Alzheimer - Sant Pau Memory Unit - Barcelona

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

Concordance between amyloid markers in CSF

Delaby Sant Pau Memory Unit - Barcelona

Amyloid peptides and tau markers in CSF Cerebrospinal fluid (CSF) biomarkers of Alzheimer’s disease (AD), such as β-amyloid 1-42 (Aβ1-42), total tau (tTau) and pTau181, have improved the management of patients with cognitive impairment. Although Aβ1-42 is considered a marker of amyloid pathology, a series of studies have shown that a decrease in CSF Aβ1-42 … Read more