Eliana Marisa Ramos
A5106175198- Amyotrophic Lateral Sclerosis Research
- Alzheimer's disease research and treatments
- Dementia and Cognitive Impairment Research
- Parkinson's Disease Mechanisms and Treatments
- Genetic Neurodegenerative Diseases
- Advanced Neuroimaging Techniques and Applications
- Mitochondrial Function and Pathology
- Neuroinflammation and Neurodegeneration Mechanisms
- Prion Diseases and Protein Misfolding
- Neurological diseases and metabolism
- Genomics and Rare Diseases
- Functional Brain Connectivity Studies
- Health, Environment, Cognitive Aging
- Autophagy in Disease and Therapy
- Autism Spectrum Disorder Research
- Folate and B Vitamins Research
- Inflammation biomarkers and pathways
- Health Systems, Economic Evaluations, Quality of Life
- Advanced MRI Techniques and Applications
- Genomic variations and chromosomal abnormalities
- Neurological disorders and treatments
- Neurobiology of Language and Bilingualism
- Cerebrospinal fluid and hydrocephalus
- Neurological Disease Mechanisms and Treatments
- Neurogenetic and Muscular Disorders Research
University of California, Los Angeles
2016-2025
VIB-UAntwerp Center for Molecular Neurology
2024
University of Antwerp
2024
Harvard University
2022-2024
Massachusetts General Hospital
2019-2024
UCLA Health
2018-2023
Liechtenstein Institute
2023
Hudson Institute
2023
John Wiley & Sons (United States)
2023
University of California, San Diego
2023
The tau positron emission tomography (PET) ligand 18F-flortaucipir binds to paired helical filaments of in aging and Alzheimer's disease (AD), but its utility detecting aggregates frontotemporal dementia (FTD) is uncertain. We performed imaging patients with the FTD syndromes (n = 45): nonfluent variant primary progressive aphasia (nfvPPA) 11), corticobasal syndrome (CBS) 10), behavioral (bvFTD) semantic (svPPA) 2) associated pathogenic genetic mutations microtubule-associated protein (MAPT)...
Abstract Introduction We created global rating scoring rules for the CDR ® plus NACC FTLD to detect and track early frontotemporal lobar degeneration (FTLD) conduct clinical trials in FTLD. Methods The was applied 970 sporadic familial participants from baseline visit of Advancing Research Treatment Frontotemporal Lobar Degeneration (ARTFL)/Longitudinal Evaluation Familial Dementia Subjects (LEFFTDS). Each eight domains equally weighed determining score. An interrater reliability study...
To test the hypothesis that plasma total tau (t-tau) and neurofilament light chain (NfL) concentrations may have a differential role in study of frontotemporal lobar degeneration syndromes (FTLD-S) clinically diagnosed Alzheimer disease (AD-S), we determined their diagnostic prognostic value FTLD-S AD-S sensitivity to pathologic diagnoses.We measured t-tau NfL with Simoa platform 265 participants: 167 FTLD-S, 43 AD-S, 55 healthy controls (HC), including 82 pathology-proven cases (50...
Mutations in the gene encoding tau (MAPT) cause frontotemporal dementia spectrum disorders. A rare variant p.A152T was reported as a risk factor for and Alzheimer's disease an initial case-control study. Such findings need replication independent cohort. We analysed multinational cohort comprising 3100 patients with neurodegenerative 4351 healthy control subjects found associated significantly higher clinically defined progressive supranuclear palsy syndrome. To assess functional biochemical...
We utilized induced pluripotent stem cells (iPSCs) derived from Huntington's disease (HD) patients as a human model of HD and determined that the phenotypes only manifest in differentiated neural cell (NSC) stage, not iPSCs. To understand molecular basis for CAG repeat expansion-dependent NSCs, we performed transcriptomic analysis iPSCs NSCs compared to isogenic controls. Differential gene expression pathway pointed transforming growth factor β (TGF-β) netrin-1 top dysregulated pathways....
We tested the hypothesis that plasma neurofilament light chain (NfL) identifies asymptomatic carriers of familial frontotemporal lobar degeneration (FTLD)-causing mutations at risk disease progression.Baseline NfL concentrations were measured with single-molecule array in original (n = 277) and validation 297) cohorts. C9orf72, GRN, MAPT mutation noncarriers from same families classified by severity (asymptomatic, prodromal, full phenotype) using CDR Dementia Staging Instrument plus behavior...
Frontotemporal dementia (FTD) therapy development is hamstrung by a lack of susceptibility, diagnostic, and prognostic biomarkers. Blood neurofilament light (NfL) shows promise as biomarker, but studies have largely focused only on core FTD syndromes, often grouping patients with different diagnoses. To expedite the clinical translation NfL, we avail ARTFL LEFFTDS Longitudinal Lobar Degeneration (ALLFTD) study resources conduct comprehensive investigation plasma NfL across syndromes in...
Importance Frontotemporal lobar degeneration (FTLD) is relatively rare, behavioral and motor symptoms increase travel burden, standard neuropsychological tests are not sensitive to early-stage disease. Remote smartphone-based cognitive assessments could mitigate these barriers trial recruitment success, but no such tools validated for FTLD. Objective To evaluate the reliability validity of measures remote FTLD evaluations. Design, Setting, Participants In this cohort study conducted from...
Abstract INTRODUCTION Higher male prevalence in sporadic behavioral variant frontotemporal dementia (bvFTD) has been reported. We hypothesized differences phenotypes between genetic and bvFTD females resulting underdiagnosis of females. METHODS included patients from two multicenter cohorts. compared cognitive symptoms, gray matter volumes, cases each sex. RESULTS Females with showed worse compulsive behavior ( p = 0.026) language impairments 0.024) to n 152). Genetic had smaller volumes...
The Advancing Research and Treatment for Frontotemporal Lobar Degeneration (ARTFL) Longitudinal Evaluation of Familial Dementia Subjects (LEFFTDS) consortia are two closely connected studies, involving multiple North American centers that evaluate both sporadic familial frontotemporal dementia (FTD) participants study longitudinal changes.
Abstract Loss-of-function mutations in progranulin ( GRN ) are a major autosomal dominant cause of frontotemporal dementia. Most pathogenic result haploinsufficiency, which is thought to dementia mutation carriers. Progranulin haploinsufficiency may drive pathogenesis by disrupting lysosomal function, as patients with on both alleles develop the storage disorder neuronal ceroid lipofuscinosis, and (FTD- also accumulate lipofuscin. The specific deficits caused insufficiency remain unclear,...
The neurological substrates of visual artistic creativity (VAC) are unknown. VAC is demonstrated here to occur early in frontotemporal dementia (FTD), and multimodal neuroimaging used generate a novel mechanistic hypothesis involving dorsomedial occipital cortex enhancement. These findings may illuminate mechanism underlying human creativity.
Abstract Introduction Primary progressive aphasia (PPA) is a neurological syndrome, associated with both frontotemporal dementia and Alzheimer's disease, in which language impairment emerges as the most salient clinical feature during initial stages of disease. Methods We screened main genes disease for pathogenic risk variants cohort 403 PPA cases. Results In this case series study, 14 (3.5%) cases carried (likely) variants: four C9orf72 expansions, nine GRN , one TARDBP mutation. Rare...
Rare variation in TREM2 has been associated with greater risk for Alzheimer's disease (AD). encodes a cell surface receptor expressed on microglia and related cells, the R47H variant AD appears to affect ability of bind extracellular ligands. In addition, other rare mutations causing early-onset neurodegeneration are thought impair expression. Using sequence kernel association (SKAT) analysis two independent cohorts, we found significant enrichment variants not previously characterized at...
Abstract Introduction It is important to establish the natural history of familial frontotemporal lobar degeneration (f‐FTLD) and provide clinical biomarker data for planning these studies, particularly in asymptomatic phase. Methods The Longitudinal Evaluation Familial Frontotemporal Dementia Subjects protocol was designed enroll follow at least 300 subjects more than three annual visits who are members kindreds with a mutation one most common f‐FTLD genes—microtubule‐associated protein...
Leisure activities impact brain aging and may be prevention targets. We characterized how physical cognitive relate to health for the first time in autosomal dominant frontotemporal lobar degeneration (FTLD).
TSC1/hamartin haploinsufficiency increases risk for tauopathy by promoting tau acetylation and accumulation.
Mutations in progranulin (GRN) cause heterogeneous clinical syndromes, including behavioral variant frontotemporal dementia (bvFTD), primary progressive aphasia (PPA), corticobasal syndrome (CBS) and Alzheimer-type (AD-type dementia). Human studies have shown that presymptomatic GRN carriers feature reduced connectivity the salience network, a system targeted bvFTD. Mice with homozygous deletion of GRN, contrast, show thalamo-cortical hypersynchrony due to aberrant pruning inhibitory...