Luis Concha‐Marambio

ORCID: 0000-0002-9454-8389
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About
Contact & Profiles
Research Areas
  • Parkinson's Disease Mechanisms and Treatments
  • Neurological disorders and treatments
  • Prion Diseases and Protein Misfolding
  • Alzheimer's disease research and treatments
  • Autism Spectrum Disorder Research
  • Dementia and Cognitive Impairment Research
  • Botulinum Toxin and Related Neurological Disorders
  • Genetic Neurodegenerative Diseases
  • Trace Elements in Health
  • Ginkgo biloba and Cashew Applications
  • Neurological diseases and metabolism
  • Nuclear Receptors and Signaling
  • Olfactory and Sensory Function Studies
  • MXene and MAX Phase Materials
  • Amyotrophic Lateral Sclerosis Research
  • Cellular transport and secretion
  • Supramolecular Self-Assembly in Materials
  • Advanced Chemical Sensor Technologies
  • Microtubule and mitosis dynamics
  • Biochemical Analysis and Sensing Techniques
  • Neuroinflammation and Neurodegeneration Mechanisms
  • Infectious Encephalopathies and Encephalitis
  • Alcoholism and Thiamine Deficiency
  • Ubiquitin and proteasome pathways
  • RNA regulation and disease

Amprion (United States)
2019-2025

The University of Texas Health Science Center at Houston
2013-2023

Universidad de Los Andes, Chile
2013-2018

University of Chile
2014-2017

Case Western Reserve University
2015

Baylor College of Medicine
2015

Texas Department of State Health Services
2015

Centers for Disease Control and Prevention
2015

University College London
2015

HealthPartners
2015

Alpha-synuclein seed amplification assays (αSyn-SAAs) are promising diagnostic tools for Parkinson's disease (PD) and related synucleinopathies. They enable detection of seeding-competent alpha-synuclein aggregates in living patients have shown high accuracy several PD other synucleinopathy patient cohorts. However, there has been confusion about αSyn-SAAs their methodology, nomenclature, relative accuracies when performed by various laboratories. We compared αSyn-SAA results obtained from...

10.1186/s40478-021-01282-8 article EN cc-by Acta Neuropathologica Communications 2021-11-06

Misfolded α-synuclein (αSyn) aggregates (αSyn-seeds) in cerebrospinal fluid (CSF) are biomarkers for synucleinopathies such as Parkinson's disease (PD). αSyn-seeds have been detected prodromal cases with isolated rapid eye movement sleep behavior disorder (iRBD).

10.1002/mds.29329 article EN cc-by-nc Movement Disorders 2023-02-13

Abstract INTRODUCTION Lewy body disease, a frequently observed co‐pathology in Alzheimer's disease (AD), can be identified antemortem cerebrospinal fluid (CSF) by α‐synuclein seed amplification assay (αS‐SAA). The prevalence and clinical impact of CSF αS‐SAA positivity AD are still unknown. METHODS was performed on samples from 240 patients (preclinical, prodromal, dementia stages), 85 controls, 84 with Parkinson's (PD), 21 PD or bodies. In patients, associations between cognitive changes...

10.1002/alz.13658 article EN cc-by Alzheimer s & Dementia 2024-02-07

Prions, the infectious agents responsible for transmissible spongiform encephalopathies, consist mainly of misfolded prion protein (PrPSc). The unique mechanism transmission and appearance a variant form Creutzfeldt–Jakob disease, which has been linked to consumption prion-contaminated cattle meat, have raised concerns about public health. Evidence suggests that disease prions circulate in body fluids from people whom is silently incubating.

10.1056/nejmoa1404401 article EN New England Journal of Medicine 2014-08-06

Human prion diseases are infectious and invariably fatal neurodegenerative diseases. They include sporadic Creutzfeldt-Jakob disease (sCJD), the most common form, variant CJD (vCJD), which is caused by interspecies transmission of prions from cattle infected bovine spongiform encephalopathy. Development a biochemical assay for sensitive, specific, early, noninvasive detection (PrPSc) in blood patients affected top medical priority to increase safety supply. vCJD has already been transmitted...

10.1126/scitranslmed.aaf6188 article EN Science Translational Medicine 2016-12-21

Prion diseases are fatal neurodegenerative disorders affecting several mammalian species, characterized by the accumulation of misfolded form prion protein, which is followed induction endoplasmic reticulum (ER) stress and activation unfolded protein response (UPR). GRP78, also called BiP, a master regulator UPR, reducing ER levels apoptosis due to an enhancement cellular folding capacity. Here, we studied role GRP78 in using vivo vitro approaches. Our results show that reduction expression...

10.1038/srep44723 article EN cc-by Scientific Reports 2017-03-23

Objective The purpose of this study was to determine the sensitivity and specificity α‐synuclein seed amplification assay (αSyn‐SAA) in antemortem postmortem cerebrospinal fluid (CSF) autopsy‐confirmed patients with different distributions pathological αSyn, co‐pathologies, clinical diagnoses. Methods αSyn‐SAA used test CSF samples from 119 subjects a variety syndromes standardized neuropathological examinations Oregon Health Science University (OHSU) California San Diego (UCSD; 56...

10.1002/ana.26453 article EN Annals of Neurology 2022-07-09

Synucleinopathies such as Parkinson's disease (PD) and multiple system atrophy (MSA) can be challenging to diagnose due the symptom overlap with, for example, atypical parkinsonisms like progressive supranuclear palsy (PSP) corticobasal degeneration (CBD). Seed amplification assays (SAA), developed detection of α-synuclein (αSyn) aggregates in CSF, have been successful when used a biomarker evaluation synucleinopathies. In this study, we investigated potential assay not only detect αSyn...

10.1016/j.parkreldis.2023.105807 article EN cc-by Parkinsonism & Related Disorders 2023-08-14

Abstract Background Aggregation of α-synuclein (α-syn) is a prominent feature Parkinson’s disease (PD) and other synucleinopathies. Currently, α-syn seed amplification assays (SAAs) using cerebrospinal fluid (CSF) represent the most promising diagnostic tools for However, CSF itself contains several compounds that can modulate aggregation in patient-dependent manner, potentially undermining unoptimized SAAs preventing quantification. Methods In this study, we characterized inhibitory effect...

10.1186/s13024-023-00613-8 article EN cc-by Molecular Neurodegeneration 2023-04-01

Lewy body disease (LBD) is a common primary or co-pathology in neurodegenerative syndromes. An alpha-synuclein seed amplification assay (αSyn-SAA) clinically available, but clinical performance, especially lower sensitivity amygdala-predominant cases, not well understood.

10.1002/alz.13799 article EN cc-by-nc Alzheimer s & Dementia 2024-03-27

Investigational therapeutics that target toxic species of α-synuclein (αSyn) aim to slow down or halt disease progression in patients with Parkinson's (PD). Here this 44-week, randomized, placebo-controlled, double-blind, single-center phase 1 study investigated safety, tolerability and immunogenicity UB-312, an active immunotherapeutic targeting pathological αSyn, PD. The primary outcome measures were adverse event frequency change anti-αSyn antibody titers blood cerebrospinal fluid (CSF)....

10.1038/s41591-024-03101-8 article EN cc-by Nature Medicine 2024-06-20

SummaryBackgroundSynuclein pathology in neurodegenerative diseases, such as Parkinson's disease (PD) and Dementia with Lewy bodies (DLB), begins years before motor or cognitive symptoms arise. Alpha-Synuclein seed amplification assays (α-syn SAA) may detect aggregated synuclein occur.MethodsData from the Parkinson Associated Risk Syndrome Study (PARS) have shown that individuals hyposmia, without symptoms, are enriched for dopamine transporter imaging (DAT) deficit at high risk to develop...

10.1016/j.ebiom.2025.105567 article EN cc-by-nc-nd EBioMedicine 2025-02-01

Tools are needed to evaluate the risk of developing Parkinson disease (PD) in at-risk populations. In this study, we examine differences alpha-synuclein seed amplification assay (αSyn-SAA) qualitative results and parameters between nonmanifesting carriers (NMCs) PD-related pathogenic variants, prodromal PD, PD a synucleinopathy participants with PD. Cross-sectional longitudinal CSF αSyn-SAA from Parkinson's Progression Markers Initiative were analyzed. positivity (maximum fluorescence...

10.1212/wnl.0000000000210279 article EN Neurology 2025-02-06

Abstract The Neuronal alpha-Synuclein Disease (NSD) biological definition and Integrated Staging System (NSD-ISS) provide a research framework to identify individuals with Lewy body pathology stage them based on underlying biology increasing degree of functional impairment. Utilizing data from the PPMI, PASADENA, SPARK studies, we developed applied biologic clinical data-informed definitions for NSD-ISS across disease continuum. Individuals enrolled as Parkinson’s disease, Prodromal, or...

10.1038/s41531-024-00789-w article EN cc-by npj Parkinson s Disease 2024-09-27

Abstract INTRODUCTION Cerebrospinal fluid (CSF) α‐synuclein (α‐syn) seed amplification assay (SAA) is a sensitive and specific tool for detecting Lewy body co‐pathology in Alzheimer's disease. METHODS A total of 1637 cross‐sectional 407 longitudinal CSF samples from the Disease Neuroimaging Initiative (ADNI) were tested with SAA. We examined dynamics amyloid beta (Aβ), α‐syn seeds, phosphorylated tau181 (p‐tau181), along global domain‐specific cognition stable SAA+, SAA−, those who converted...

10.1002/alz.14276 article EN cc-by-nc Alzheimer s & Dementia 2024-10-20

Abstract Background The pathophysiology of idiopathic normal pressure hydrocephalus (iNPH) and its association with neurodegenerative disorders is poorly understood. Objectives aim was to determine the prevalence α‐synuclein pathology in iNPH associations clinical characteristics. Methods We used seed amplification assay (synSAA) retrospectively analyze cerebrospinal fluid (CSF) from a large single‐center cohort (n = 144). Clinical assessments comprised Unified Parkinson's Disease Rating...

10.1002/mds.30184 article EN cc-by Movement Disorders 2025-04-09

Abstract Variant Creutzfeldt-Jakob disease (vCJD) is a rare, fatal prion resulting from transmission to humans of the infectious agent bovine spongiform encephalopathy. We describe clinical presentation recent case vCJD in United States and provide an update on diagnostic testing. The location this patient's exposure less clear than those 3 previously reported US cases, but strong evidence indicates that contaminated beef occurred outside more decade before illness onset. This exemplifies...

10.3201/eid2105.142017 article EN cc-by Emerging infectious diseases 2015-04-15

Variant Creutzfeldt-Jakob disease (vCJD) is caused by prion infection with bovine spongiform encephalopathy and can be transmitted blood transfusion. Protein misfolding cyclic amplification (PMCA) detect prions in from vCJD patients 100% sensitivity specificity. To determine whether PMCA enables detection during the preclinical stage of infection, we performed a blind study using samples longitudinally collected 28 control macaques 3 peripherally infected vCJD. Our results demonstrate that...

10.3201/eid2601.181423 article EN cc-by Emerging infectious diseases 2019-11-19
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