Identification of ARPP21 as a New Gene Linked to ALS

Identification of a pathogenic mutation in ARPP21 in patients with amyotrophic lateral sclerosis

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, around 40 genes have been associated with ALS. In a study published in the Journal of Neurology, … Read more

Enhanced Resolution to Study Synaptic Tau Pathology in Alzheimer’s Disease

Enhanced Resolution to Study Synaptic Tau Pathology in Alzheimer’s Disease

Our recent study shows that combining Array Tomography with an advanced imaging technique called Two-Colour Direct Stochastic Optical Reconstruction Microscopy (dSTORM) allows for the observation of tau pathology at synapses with unprecedented detail. This approach offers new insights into how these proteins disrupt brain function in Alzheimer’s disease (AD). What Was Done in This Study? … Read more

Synaptic Proteins VAMP-2 and SNAP-25 as Biomarkers in Dementia with Lewy Bodies

Dementia with Lewy bodies (DLB) is one of the leading causes of dementia, yet clear biomarkers for its diagnosis and monitoring are still lacking. The Lewy bodies in the brains of people with DLB are primarily composed of accumulations of the protein α-synuclein, which can cause synaptic dysfunction from the early stages of the disease. … Read more

Awarded with the SEN 2023 Prizes

Dr. Juan Fortea Ormaechea, director of the Memory Unit at Sant Pau Hospital, has been awarded the Scientific Modality Prize in the Alzheimer’s category during the Institutional Act of the Spanish Society of Neurology (SEN), held on June 6, 2024, at the Fonseca College of Santiago de Compostela. This prestigious recognition underscores Dr. Fortea’s world-class … Read more

Clinical dimensions along the non-fluent variant primary progressive aphasia spectrum

“Clinical dimensions along the nonfluent variant primary progressive aphasia spectrum” Dr. Ignacio Illán Gala is a Neurologist at the memory unit of the Hospital de la Santa Creu i Sant Pau. He currently leads the research group focused on the “Natural history, diagnosis and treatment of Frontotemporal Lobar Degeneration”. Other clinical researchers from our center … Read more