Nelly Joseph‐Mathurin
A5023869829- Alzheimer's disease research and treatments
- Dementia and Cognitive Impairment Research
- Bioinformatics and Genomic Networks
- Advanced Neuroimaging Techniques and Applications
- Intracerebral and Subarachnoid Hemorrhage Research
- Neuroinflammation and Neurodegeneration Mechanisms
- Medical Imaging Techniques and Applications
- Functional Brain Connectivity Studies
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Tryptophan and brain disorders
- MRI in cancer diagnosis
- Neurological Disease Mechanisms and Treatments
- Advanced MRI Techniques and Applications
- Cerebrovascular and genetic disorders
- Health Systems, Economic Evaluations, Quality of Life
- Cerebrovascular and Carotid Artery Diseases
- Metabolomics and Mass Spectrometry Studies
- Cholinesterase and Neurodegenerative Diseases
- Radiomics and Machine Learning in Medical Imaging
- Brain Tumor Detection and Classification
- Multiple Sclerosis Research Studies
- Lanthanide and Transition Metal Complexes
- Prion Diseases and Protein Misfolding
- Computational Drug Discovery Methods
- Cellular transport and secretion
Washington University in St. Louis
2016-2025
Mallinckrodt (United States)
2016-2024
Hospital for Sick Children
2024
California University of Pennsylvania
2024
Rush University Medical Center
2024
Johns Hopkins University
2024
Cleveland Clinic
2024
Brigham and Women's Hospital
2024
University of Missouri–St. Louis
2023
Mayo Clinic in Florida
2021-2023
Macrophages are important players in the maintenance of tissue homeostasis1. Perivascular and leptomeningeal macrophages reside near central nervous system (CNS) parenchyma2, their role CNS physiology has not been sufficiently well studied. Given continuous interaction with cerebrospinal fluid (CSF) strategic positioning, we refer to these cells collectively as parenchymal border (PBMs). Here demonstrate that PBMs regulate CSF flow dynamics. We identify a subpopulation express high levels...
Quantitative in vivo measurement of brain amyloid burden is important for both research and clinical purposes. However, the existence multiple imaging tracers presents challenges to interpretation such measurements. This study a direct comparison Pittsburgh compound B-based florbetapir-based same participants from two independent cohorts using crossover design.Pittsburgh B florbetapir PET data three different were analyzed previously established pipelines obtain global These measurements...
"Brain-predicted age" quantifies apparent brain age compared to normative neuroimaging trajectories. Advanced brain-predicted has been well established in symptomatic Alzheimer disease (AD), but is underexplored preclinical AD. Prior studies have typically used structural MRI, resting-state functional connectivity (FC) remains underexplored. Our model predicted from FC 391 cognitively normal, amyloid-negative controls (ages 18-89). We applied the trained 145 amyloid-negative, 151 AD, and 156...
Importance Increased white matter hyperintensity (WMH) volume is a common magnetic resonance imaging (MRI) finding in both autosomal dominant Alzheimer disease (ADAD) and late-onset (LOAD), but it remains unclear whether increased WMH along the AD continuum reflective of AD-intrinsic processes or secondary to elevated systemic vascular risk factors. Objective To estimate associations neurodegeneration parenchymal vessel amyloidosis with accumulation investigate associated beyond these...
Abstract The Dominantly Inherited Alzheimer Network (DIAN) is an international collaboration studying autosomal dominant disease (ADAD). ADAD arises from mutations occurring in three genes. Offspring families have a 50% chance of inheriting their familial mutation, so non-carrier siblings can be recruited for comparisons case–control studies. age onset highly predictable within families, allowing researchers to estimate individual’s point the trajectory. These characteristics allow candidate...
Alzheimer disease (AD) is the most common form of dementia worldwide. Treatment AD has mainly been focused on symptomatic treatment until recently with advent and approval monoclonal antibody (MAB) immunotherapy. U.S. Food Drug Administration-approved drugs such as aducanumab, well upcoming newer-generation drugs, have provided an exciting new therapy reducing amyloid plaque burden in AD. Although this frontier shown benefits for patients, it not without complications, which are neurologic....
Background: Clinical trials of anti-Aβ monoclonal antibodies in Alzheimer disease (AD) infer target engagement from Aβ positron emission tomography (PET) and/or fluid biomarkers such as cerebrospinal (CSF) Aβ42/40.However, these measure deposits indirectly incompletely.In contrast, postmortem neuropathologic assessments allow direct investigation treatment effects on brain and many other pathologic features.Methods: From a clinical trial dominantly inherited AD, we measured...
Cerebral aging is often associated with the occurrence of neurodegenerative diseases leading to dementia. Animal models are critical elucidate mechanisms dementia and evaluate neuroprotective drugs. Rats that received intracerebroventricular injection streptozotocin (icv-STZ) have been reported as a model In these animals, this drug induces oxidative stress brain glucose metabolism impairments insulin signal transduction failure. These be involved in pathogenesis Alzheimer's disease other...
To determine the characteristics of participants with amyloid-related imaging abnormalities (ARIA) in a trial gantenerumab or solanezumab dominantly inherited Alzheimer disease (DIAD).
In this high-throughput proteomic study of autosomal dominant Alzheimer's disease (ADAD), we sought to identify early biomarkers in cerebrospinal fluid (CSF) for monitoring and treatment strategies. We examined CSF proteins 286 mutation carriers (MCs) 177 non-carriers (NCs). The developed multi-layer regression model distinguished with different pseudo-trajectories between these groups. validated our findings independent ADAD as well sporadic AD datasets employed machine learning develop...
To date, there is no high throughput proteomic study in the context of Autosomal Dominant Alzheimer's disease (ADAD). Here, we aimed to characterize early CSF proteome changes ADAD and leverage them as potential biomarkers for monitoring therapeutic strategies. We utilized Somascan® 7K assay quantify protein levels from 291 mutation carriers (MCs) 185 non-carriers (NCs). employed a multi-layer regression model identify proteins with different pseudo-trajectories between MCs NCs. replicated...
Amyloid imaging plays an important role in the research and diagnosis of dementing disorders. Substantial variation quantitative methods to measure brain amyloid burden exists field. The aim this work is investigate impact methodological variations quantification using data from Dominantly Inherited Alzheimer's Network (DIAN), autosomal dominant disease population. Cross-sectional longitudinal [11C]-Pittsburgh Compound B (PiB) PET DIAN study were analyzed. Four candidate reference regions...
Neurofilament light chain (NfL) is a protein that selectively expressed in neurons. Increased levels of NfL measured either cerebrospinal fluid or blood thought to be biomarker neuronal damage neurodegenerative diseases. However, there have been limited investigations relating the concurrent measures white matter (WM) decline it should reflect. White common feature Alzheimer's disease. We hypothesized serum would associate with WM lesion volume and diffusion tensor imaging (DTI) metrics...
Abstract Background PSEN1, PSEN2, and APP mutations cause Alzheimer’s disease (AD) with an early age at onset (AAO) progressive cognitive decline. PSEN1 are more common generally have earlier AAO; however, certain a later AAO, similar to those observed in PSEN2 . Methods We examined whether endotypes exist across these AAO (~ 55 years) using hiPSC-derived neurons from familial (FAD) patients harboring A79V , N141I V717I mechanistically characterized by integrating RNA-seq ATAC-seq. Results...
Defining a signature of cortical regions interest preferentially affected by Alzheimer disease (AD) pathology may offer improved sensitivity to early AD compared hippocampal volume or mesial temporal lobe alone. Since late-onset (LOAD) participants tend have age-related comorbidities, the younger-onset age in autosomal dominant (ADAD) provide more idealized model thinning AD. To test this, goals this study were compare degree overlap between ADAD and LOAD maps evaluate ability predict...
<h3>Objective</h3> To investigate the inherent clinical risks associated with presence of cerebral microhemorrhages (CMHs) or microbleeds and characterize individuals at high risk for developing hemorrhagic amyloid-related imaging abnormality (ARIA-H), we longitudinally evaluated families dominantly inherited Alzheimer disease (DIAD). <h3>Methods</h3> Mutation carriers (n = 310) noncarriers 201) underwent neuroimaging, including gradient echo MRI sequences to detect CMHs, neuropsychological...
The apolipoprotein E ( APOE ) ε4 allele is strongly linked with cerebral β-amyloidosis, but its relationship tauopathy less established. We investigated the between carrier status, regional amyloid-β (Aβ), magnetic resonance imaging (MRI) volumetrics, tau positron emission tomography (PET), messenger RNA (mRNA) expression maps, and cerebrospinal fluid phosphorylated (CSF ptau 181 ). Three hundred fifty participants underwent imaging, 270 had . used computational models to evaluate main...
Amyloidosis, including cerebral amyloid angiopathy, and markers of small vessel disease (SVD) vary across dominantly inherited Alzheimer's (DIAD) presenilin-1 (PSEN1) mutation carriers. We investigated how position relative to codon 200 (pre-/postcodon 200) influences these pathologic features dementia at different stages. Individuals from families with known PSEN1 mutations (n = 393) underwent neuroimaging clinical assessments. cross-sectionally evaluated regional Pittsburgh compound...