19 results match your criteria: "Alzheimer's Centre Reina Sofia-CIEN Foundation-ISCIII[Affiliation]"

Background: The advent of Alzheimer's disease-modifying drugs requires accurate biological diagnosis to identify candidates for these therapies. So far, the most promising single plasma biomarker is phosphorylated tau at threonine 217 (p-tau217). To understand its biological features, it is essential to know its longitudinal trajectory and factors influencing it in cognitively unimpaired subjects with no brain pathology.

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X-chromosome-wide association study for Alzheimer's disease.

Mol Psychiatry

December 2024

Univ. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, LabEx DISTALZ - U1167-RID-AGE Facteurs de Risque et Déterminants Moléculaires des Maladies Liées au Vieillissement, Lille, France.

Article Synopsis
  • A study was conducted to investigate the X-chromosome's role in Alzheimer's Disease (AD), which had been overlooked in previous genome-wide association studies.
  • The research included 115,841 AD cases and 613,671 controls, considering different X-chromosome inactivation (XCI) states in females.
  • While no strong genetic risk factors for AD were found on the X-chromosome, seven significant loci were identified, suggesting areas for future research.
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Trajectory of Cognitive Decline Before and After Stroke in 14 Population Cohorts.

JAMA Netw Open

October 2024

Centre for Healthy Brain Ageing, Discipline of Psychiatry and Mental Health, School of Clinical Medicine, University of New South Wales, Sydney, Australia.

Article Synopsis
  • Poststroke cognitive impairment is common, but the exact changes in cognitive function following a first stroke compared to pre-stroke levels are not fully understood.
  • The study aimed to track cognitive performance over time in stroke survivors versus individuals without strokes, using data from 14 international cohorts of older adults.
  • Results showed that incident stroke led to a significant immediate drop in overall cognitive skills and accelerated decline in cognitive abilities over time.
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Article Synopsis
  • The study investigates how cardiometabolic multimorbidity (CMM) and depression affect cognitive function in older adults, aiming to understand their individual and combined impacts.
  • It harmonizes data from 14 international cohort studies and utilizes various scales to assess CMM and depression among participants who did not have dementia at the start of the study.
  • Findings include the analysis of over 30,000 older adults, revealing that both CMM and depression are linked to cognitive decline, with further validation through additional studies across different settings.
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Article Synopsis
  • Human prion diseases are unusual brain illnesses that can spread and cause quick changes in memory and thinking.
  • The study looked at a specific type called sporadic Creutzfeldt-Jakob disease (sCJD), examining data from over 3,700 cases to understand how long the disease lasts and at what age it starts.
  • Researchers found important genetic clues on chromosome 20 that can help understand how long people live with this disease, especially one specific genetic change that seems to have a big effect on survival time.
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A comparative anatomical network analysis of the human and chimpanzee brains.

Am J Biol Anthropol

September 2024

Museo Nacional de Ciencias Naturales - CSIC, Madrid, Spain.

Spatial interactions among anatomical elements help to identify topological factors behind morphological variation and can be investigated through network analysis. Here, a whole-brain network model of the chimpanzee (Pan troglodytes, Blumenbach 1776) is presented, based on macroanatomical divisions, and compared with a previous equivalent model of the human brain. The goal was to contrast which regions are essential in the geometric balance of the brains of the two species, to compare underlying phenotypic patterns of spatial variation, and to understand how these patterns might have influenced the evolution of human brain morphology.

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An inclusive anatomical network analysis of human craniocerebral topology.

J Anat

November 2024

Centro Nacional de Investigación Sobre la Evolución Humana, Burgos, Spain.

The human brain's complex morphology is spatially constrained by numerous intrinsic and extrinsic physical interactions. Spatial constraints help to identify the source of morphological variability and can be investigated by employing anatomical network analysis. Here, a model of human craniocerebral topology is presented, based on the bony elements of the skull at birth and a previously designed model of the brain.

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Genome sequence analyses identify novel risk loci for multiple system atrophy.

Neuron

July 2024

Neurodegenerative Diseases Research Unit, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA; Department of Neurology, Johns Hopkins University Medical Center, Baltimore, MD, USA. Electronic address:

Article Synopsis
  • Multiple system atrophy (MSA) is a neurodegenerative disease that leads to symptoms like parkinsonism and ataxia, but its genetic causes are not well understood and treatment options are limited to supportive care.
  • A comprehensive study involving the whole genome sequencing of nearly 900 MSA patients and over 7,000 controls discovered four key genetic risk factors associated with the disease.
  • The research identified potential susceptibility genes and provided insights into how genetic variations influence gene expression in brain cells, offering a valuable resource for further studies on similar diseases.
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Glial fibrillary acidic protein (GFAP), a proxy of astrocyte reactivity, has been proposed as biomarker of Alzheimer's disease. However, there is limited information about the correlation between blood biomarkers and post-mortem neuropathology. In a single-centre prospective clinicopathological cohort of 139 dementia patients, for which the time-frame between GFAP level determination and neuropathological assessment was exceptionally short (on average 139 days), we analysed this biomarker, measured at three time points, in relation to proxies of disease progression such as cognitive decline and brain weight.

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Background: Plasma biomarkers of Alzheimer's disease (AD) constitute a non-invasive tool for diagnosing and classifying subjects. They change even in preclinical stages, but it is necessary to understand their properties so they can be helpful in a clinical context.

Objective: With this work we want to study the evolution of p-tau231 plasma levels in the preclinical stages of AD and its relationship with both cognitive and imaging parameters.

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Background: The optimal cut-off for Alzheimer's disease (AD) CSF biomarkers remains controversial.

Objective: To analyze the performance of cut-off points standardized by three methods: one that optimized the agreement between 11C-Pittsburgh compound B PET (a-PET) and CSF biomarkers (Aβ1-42, pTau, tTau, and Aβ1-42/Aβ1-40 ratio) in our population, called PET-driven; an unbiased cut-off using data from a healthy research cohort, called data-driven, and that provided by the manufacturer. We also compare changes in ATN classification.

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Vascular microforamina and endocranial surface: Normal variation and distribution in adult humans.

Anat Rec (Hoboken)

October 2024

Antropologické oddělení, Přírodovědecké muzeum, Národní Muzeum, Prague, Czech Republic.

The term craniovascular traits refers to the imprints left by arteries and veins on the skull bones. These features can be used in biological anthropology and archaeology to investigate the morphology of the vascular network in extinct species and past populations. Generally, the term refers to macrovascular features of the endocranial cavity, like those associated with the middle meningeal artery, venous sinuses, emissary foramina, and diploic channels.

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Cognitive archaeology, and the psychological assessment of extinct minds.

J Comp Neurol

January 2024

Centro Nacional de Investigación sobre la Evolución Humana, Burgos, Spain.

Evolutionary anthropology relies on both neontological and paleontological information. In the latter case, fields such as paleoneurology, neuroarchaeology, and cognitive archaeology are supplying new perspectives in prehistory and neuroscience. Cognitive archaeology, in particular, investigates the behaviors associated with extinct species or cultures according to specific psychological models.

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Cantabria Cohort stems from a research and action initiative lead by researchers from Valdecilla Research Institute (IDIVAL), Marqués de Valdecilla University Hospital and University of Cantabria, supported by the regional Goverment. Its aim is to identify and follow up a cohort that would provide information to improve the understanding of the etiology and prognosis of different acute and chronic diseases. The Cantabria Cohort will recruit between 40,000-50,000 residents aged 40-69 years at baseline, representing 10-20% of the target population.

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Genetic Associations Between Modifiable Risk Factors and Alzheimer Disease.

JAMA Netw Open

May 2023

Department of Clinical Biochemistry, Copenhagen University Hospital-Rigshospitalet, Copenhagen, Denmark.

Article Synopsis
  • An estimated 40% of dementia cases might be preventable by altering 12 specific risk factors throughout a person's life, although there's insufficient evidence for many of them.
  • The study aims to identify causal relationships between modifiable risk factors for Alzheimer’s disease (AD) to encourage new treatment options and better prevention strategies.
  • Researchers analyzed data from over 39,000 AD patients and 401,000 controls, finding that higher genetically determined levels of HDL cholesterol and systolic blood pressure were linked to an increased risk of developing AD.
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Introduction: Patients with familial early-onset dementia (EOD) pose a unique opportunity for gene identification studies.

Methods: We present the phenotype and whole-exome sequencing (WES) study of an autosomal dominant EOD family. Candidate genes were examined in a set of dementia cases and controls (n = 3712).

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Genome-wide meta-analysis for Alzheimer's disease cerebrospinal fluid biomarkers.

Acta Neuropathol

November 2022

Alzheimer Center Amsterdam, Neurology, Vrije Universiteit Amsterdam, Amsterdam UMC Location VUmc, Amsterdam, The Netherlands.

Article Synopsis
  • Amyloid-beta 42 (Aβ42) and phosphorylated tau (pTau) levels in cerebrospinal fluid (CSF) offer better insight into Alzheimer's disease (AD) than just clinical diagnosis.
  • The European Alzheimer & Dementia Biobank (EADB) analyzed data from 31 cohorts with over 13,000 individuals, identifying new genetic associations such as CR1 for Aβ42 and BIN1 for pTau, alongside novel associations with GMNC and C16orf95.
  • Analysis of all AD risk loci revealed four biological categories linked to Aβ42 and pTau, suggesting multiple pathways in AD's development, with further studies indicating GMNC and C16orf95 also relate to brain ventricular volume.
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Background: Previous studies suggest a link between CAG repeat number in the HTT gene and non-Huntington neurodegenerative diseases.

Objective: The aim is to analyze whether expanded HTT CAG alleles and/or their size are associated with the risk for developing α-synucleinopathies or their behavior as modulators of the phenotype.

Methods: We genotyped the HTT gene CAG repeat number and APOE-Ɛ isoforms in a case-control series including patients with either clinical or neuropathological diagnosis of α-synucleinopathy.

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Genetic Architecture of Primary Tauopathies.

Neuroscience

May 2023

CIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, 28220 Madrid, Spain; Alzheimer's Centre Reina Sofia-CIEN Foundation-ISCIII, 28031 Madrid, Spain.

Primary Tauopathies are a group of diseases defined by the accumulation of Tau, in which the alteration of this protein is the primary driver of the neurodegenerative process. In addition to the classical syndromes (Pick's disease (PiD), progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), and argyrophilic grain disease (AGD)), new entities, like primary age-related Tauopathy (PART), have been recently described. Except for the classical Richardson's syndrome phenotype in PSP, the correlation between the clinical picture of the primary Tauopathies and underlying pathology is poor.

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