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
Research award by Fundación hna Fundación hna has awarded Dr. Oriol Dols-Icardo the prize of the first edition of the “Premio de Investigación Científica de Salud“. This is a competitive call for funding a research project on Amyotrophic Lateral Sclerosis (ALS), in which a total of 19 proposals have been submitted. The project funded by … Read more
What is the transcriptome and why the motor cortex? The transcriptome is a set of tens of thousands of molecules called RNAs that have a key role in the formation of proteins and, therefore, in the response to pathological processes in the body. On the other hand, the motor cortex is the region of the … Read more
What are circular RNAs? RNAs are a type of molecules present in all human cells. They usually have a linear conformation. However, some species with a ring-like structure have recently been described and named “circular RNAs”, but little is known about their function. Recent studies in the field have reported changes in the levels of … Read more
Although there are other unmodifiable causes of dementia, the existence of family aggregation indicates that genetics play a role to a greater or lesser extent. In recent years, there have been numerous studies that have provided new information that helps to better understand the genetic component in neurodegenerative diseases. Our Research Group, together with researchers … Read more