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Identification of ARPP21 as a New Gene Linked to ALS

Identification of ARPP21 as a New Gene Linked to ALS

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that causes the progressive degeneration of motor neurons, the cells responsible for transmitting signals from the brain to the muscles. While the exact cause of this rare disease remains unknown,...

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Myelin loss in C9orf72 hexanucleotide expansion carriers

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...

The link between Alzheimer’s disease and Down syndrome

The link between Alzheimer’s disease and 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...

The Trial Ready Cohort-Down Syndrome (TRC-DS) begins

The Trial Ready Cohort-Down Syndrome (TRC-DS) begins

A pioneering international study that accelerates the inclusion of adults with Down Syndrome in clinical trials is starting at the Alzheimer-Down Unit of the Hospital de Sant Pau and the Fundació Catalana de Síndome de Down in Barcelona. The Trial Ready Cohort-Down...

Assessing the value of MRI for the diagnosis of tauopathies

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...

Multimarker synaptic panels for FTD

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...