A5004855604- Parkinson's Disease Mechanisms and Treatments
- Neurological diseases and metabolism
- Neurological disorders and treatments
- Autism Spectrum Disorder Research
- Dementia and Cognitive Impairment Research
- Alzheimer's disease research and treatments
- RNA regulation and disease
- Nuclear Receptors and Signaling
- Ginkgo biloba and Cashew Applications
- Lysosomal Storage Disorders Research
- Genetics and Neurodevelopmental Disorders
- Genetic Neurodegenerative Diseases
- Diet and metabolism studies
- Genetic Associations and Epidemiology
- Neuroinflammation and Neurodegeneration Mechanisms
- Banana Cultivation and Research
- Cellular transport and secretion
- Folate and B Vitamins Research
- Botulinum Toxin and Related Neurological Disorders
- Dysphagia Assessment and Management
- Cerebral Palsy and Movement Disorders
- Metabolism and Genetic Disorders
- Genomic variations and chromosomal abnormalities
- Balance, Gait, and Falls Prevention
- Metabolomics and Mass Spectrometry Studies
Geriatric Research Education and Clinical Center
2013-2024
University of Washington
2015-2024
VA Puget Sound Health Care System
2015-2024
Oregon Health & Science University
2008-2024
University of Miami
1992-2024
Indiana University School of Medicine
2024
University of California, San Diego
2008-2024
University of Pennsylvania
2007-2024
Thomas Jefferson University
2024
Stanford University
2021-2024
Recent studies indicate an increased frequency of mutations in the gene encoding glucocerebrosidase (GBA), a deficiency which causes Gaucher's disease, among patients with Parkinson's disease. We aimed to ascertain GBA ethnically diverse group disease.Sixteen centers participated our international, collaborative study: five from Americas, six Europe, two Israel, and three Asia. Each center genotyped standard DNA panel permit comparison genotyping results across centers. Genotypes phenotypic...
Mutations in LRRK2, the gene that encodes leucine-rich repeat kinase 2, are a cause of Parkinson's disease (PD). The International LRRK2 Consortium was established to answer three key clinical questions: can LRRK2-associated PD be distinguished from idiopathic PD; which mutations pathogenic; and what is age-specific cumulative risk for individuals who inherit or at inheriting deleterious mutation LRRK2?Researchers 21 centres across world collaborated on this study. frequency common...
There is mounting evidence for a connection between the gut and Parkinson's disease (PD). Dysbiosis of microbiota could explain several features PD.
Biomarkers are urgently needed for the diagnosis and monitoring of disease progression in Parkinson’s disease. Both DJ-1 α-synuclein, two proteins critically involved pathogenesis, have been tested as biomarkers several recent studies with inconsistent results. These largely due to variation protein species detected by different antibodies, limited numbers patients some studies, or inadequate control important variables. In this study, nature α-synuclein human cerebrospinal fluid was studied...
Abstract Objective: There is a clear need to develop biomarkers for Parkinson disease (PD) diagnosis, differential diagnosis of Parkinsonian disorders, and monitoring progression. We others have demonstrated that decrease in DJ‐1 and/or α‐synuclein the cerebrospinal fluid (CSF) potential index but not PD severity. Methods: Using highly sensitive quantitative Luminex assays, we measured total tau, phosphorylated amyloid beta peptide 1–42 (Aβ ), Flt3 ligand, fractalkine levels CSF large cohort...
Biomarkers are needed to assist in the diagnosis and medical management of various neurodegenerative disorders, including Alzheimer's disease (AD), Parkinson's (PD), dementia with Lewy body (DLB). We have employed a multiplex quantitative
<h3>Objective</h3>To test for an association between the apolipoprotein E (APOE) ϵ4 allele and dementias with synucleinopathy.<h3>Design</h3>Genetic case-control study.<h3>Setting</h3>Academic research.<h3>Patients</h3>Autopsied subjects were classified into 5 categories: dementia high-level Alzheimer disease (AD) neuropathologic changes (NCs) but without Lewy body (LBD) NCs (AD group; n = 244), LBDNCs ADNCs (LBD-AD 224), no or low levels of (pure DLB [pDLB] 91), Parkinson (PDD) (n 81),...
An assay for detecting phosphorylated α-synuclein in CSF may help to diagnose Parkinson’s disease and determine severity.
Parkinson disease (PD) is heterogeneous in symptom manifestation and rate of progression. Identifying factors that influence progression could provide mechanistic insight, improve prognostic accuracy, elucidate novel therapeutic targets.To determine whether GBA mutations the E326K polymorphism modify PD progression.The entire coding region was screened for 740 patients with enrolled at 7 sites from Cognitive Genetics Consortium. Detailed longitudinal motor cognitive assessments were...
Cognitive impairment is a common and disabling problem in Parkinson disease (PD) that not well understood difficult to treat. Identification of genetic variants influence the rate cognitive decline or pattern early deficits PD might provide clearer understanding etiopathogenesis this important nonmotor feature.To determine whether variation APOE, MAPT, SNCA genes associated with performance patients PD.We studied 1079 from 6 academic centers United States who underwent assessments memory...
Abstract In Parkinson’s disease (PD), gastrointestinal features are common and often precede the motor signs. Braak colleagues proposed that PD may start in gut, triggered by a pathogen, spread to brain. Numerous studies have examined gut microbiome PD; all found it be altered, but inconsistent results on associated microorganisms. Studies date been small ( N = 20 306) difficult compare or combine due varied methodology. We conducted microbiome-wide association study (MWAS) with two large...
ABSTRACT Background Loss‐of‐function mutations in the GBA gene are associated with more severe cognitive impairment PD, but nature of these deficits is not well understood and whether common polymorphisms influence performance PD yet known. Methods We screened coding region for E326K polymorphism 1,369 patients enrolled at eight sites from Cognitive Genetics Consortium. Participants underwent assessments learning memory (Hopkins Verbal Learning Test–Revised), working memory/executive...
Abstract Introduction Alzheimer's disease (AD) and Parkinson's (PD) involve tau pathology. Tau is detectable in blood, but its clearance from neuronal cells the brain poorly understood. Methods efflux to blood was evaluated by administering radioactively labeled unlabeled intracerebroventricularly wild‐type knock‐out mice, respectively. Central nervous system (CNS)–derived L1CAM‐containing exosomes further characterized extensively human plasma, including single molecule array technology...
Our aim was to identify genes that influence the inverse association of coffee with risk developing Parkinson's disease (PD). We used genome-wide genotype data and lifetime caffeinated-coffee-consumption on 1,458 persons PD 931 without from NeuroGenetics Research Consortium (NGRC), we performed a interaction study (GWAIS), testing each SNP's main-effect plus its coffee, adjusting for sex, age, two principal components. then stratified subjects as heavy or light coffee-drinkers (GWAS) in...