Research

Brain Metabolism in Alzheimer’s Disease Associated with Down Syndrome: New Findings with FDG-PET

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Regional Brain Metabolism across the Alzheimer's Disease Continuum in Down Syndrome

Down syndrome (DS) is a genetic form of Alzheimer’s disease (AD). Due to the overexpression of the APP gene on chromosome 21, nearly all individuals with DS develop AD-related pathological changes and dementia secondary to this disease. Brain metabolism, measured using fluorodeoxyglucose positron emission tomography ([¹⁸F]FDG-PET), is considered a biomarker of AD-related neurodegeneration. This recent … Read more

Medial Temporal Lobe Atrophy in Down Syndrome Along the Alzheimer’s Disease Continuum

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Medial Temporal Lobe Atrophy in Down Syndrome Along the Alzheimer’s Disease Continuum The medial temporal lobe (MTL) is one of the first regions affected by tau pathology, making structural changes in these areas promising biomarkers for identifying early signs of Alzheimer’s disease (AD). However, little is known about the integrity of these regions in individuals … Read more

proNGF in Neuron-Derived Extracellular Vesicles: An Early Alzheimer’s Signature in Down Syndrome

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Extracellular Vesicles - Sant Pau Memory Unit

proNGF in Neuron-Derived Extracellular Vesicles: An Early Alzheimer’s Signature in Down Syndrome Down syndrome (DS) is a genetic form of Alzheimer’s disease (AD), with a high risk of early-onset neurodegeneration. This study, published in Alzheimer’s & Dementia, is the first to analyze levels of the nerve growth factor precursor protein (proNGF) in neuron-derived extracellular vesicles … Read more

Women show greater capacity to compensate for brain damage in cases of genetic frontotemporal dementia

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Frontotemporal dementia (FTD) encompasses a diverse group of neurodegenerative diseases characterized by progressive deterioration in social behavior, language, and executive functions. This condition has a strong genetic basis, with up to 30% of affected individuals carrying autosomal dominant mutations. Sex has gained importance in neurodegenerative research, especially in Alzheimer’s disease, where evidence shows that, together … Read more

Single-cell RNA Sequencing Highlights Key Role of Natural Killer Cells in ALS

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The immune system plays a significant role in the development of various neurodegenerative diseases. In this study published in the Journal of Neuroinflammation, the role of the immune system in this disease is investigated for the first time at single-cell resolution. Natural killer (NK) cells are primarily known for their role in the defense against … Read more

Identification of ARPP21 as a New Gene Linked to ALS

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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