A5090004774- Parkinson's Disease Mechanisms and Treatments
- Neurological disorders and treatments
- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- Neuroscience and Neuropharmacology Research
- Neurological diseases and metabolism
- RNA regulation and disease
- Botulinum Toxin and Related Neurological Disorders
- Autism Spectrum Disorder Research
- Banana Cultivation and Research
- Nuclear Receptors and Signaling
- Acute Ischemic Stroke Management
- Parallel Computing and Optimization Techniques
- Receptor Mechanisms and Signaling
- Molecular Sensors and Ion Detection
- Embedded Systems Design Techniques
- Biopolymer Synthesis and Applications
- Neurological and metabolic disorders
- Cultural Industries and Urban Development
- Amino Acid Enzymes and Metabolism
- Venous Thromboembolism Diagnosis and Management
- Coenzyme Q10 studies and effects
- Lysosomal Storage Disorders Research
- Neurotransmitter Receptor Influence on Behavior
- Toxic Organic Pollutants Impact
Albany Stratton VA Medical Center Albany
2010-2024
The University of Texas Southwestern Medical Center
2024
Edward Hines, Jr. VA Hospital
2024
Ann Arbor Center for Independent Living
2024
AmerisourceBergen (United States)
2024
University of Kansas Medical Center
2024
VA Connecticut Healthcare System
2022
New York State Department of Health
2010-2018
Wadsworth Center
2010-2018
Moss Memorial Health Clinic
2018
<h3>Background</h3> A functional repeat polymorphism in the<i>SNCA</i>promoter (<i>REP1</i>) conveys susceptibility for Parkinson disease (PD). There is also increasing evidence that single-nucleotide polymorphisms (SNPs) elsewhere the gene are associated with PD risk. <h3>Objectives</h3> To further explore association of common<i>SNCA</i>SNPs susceptibility, to determine whether allelic heterogeneity exists, and examine correlation between PD-associated variants plasma α-synuclein levels....
Abstract Objective An inversion polymorphism of approximately 900kb on chromosome 17q21, which includes the microtubule‐associated protein tau ( MAPT ) gene defines two haplotype clades, H1 and H2. Several small case–control studies have observed a marginally significant excess H1/H1 diplotype among patients with Parkinson's disease (PD), one reported refining association to region spanning exons 1 4 . We sought replicate these findings. Methods genotyped 1,762 PD 2,010 control subjects for...
<h3>Objective</h3> To assess the reliability and usefulness of an EEG-based brain-computer interface (BCI) for patients with advanced amyotrophic lateral sclerosis (ALS) who used it independently at home up to 18 months. <h3>Methods</h3> Of 42 consented, 39 (93%) met study criteria, 37 (88%) were assessed use Wadsworth BCI. Nine (21%) could not other 28, 27 (men, age 28–79 years) (64%) had BCI placed in their homes, they caregivers trained it. Use data collected by Internet. Periodic visits...
To test the hypothesis that chronic treatment of early-stage Huntington disease (HD) with high-dose coenzyme Q10 (CoQ) will slow progressive functional decline HD.We performed a multicenter randomized, double-blind, placebo-controlled trial. Patients HD (n = 609) were enrolled at 48 sites in United States, Canada, and Australia from 2008 to 2012. randomized receive either CoQ 2,400 mg/d or matching placebo, then followed for 60 months. The primary outcome variable was change baseline month...
To identify the causal gene in a multi-incident U.S. kindred with Parkinson's disease (PD). We characterized family classical PD phenotype which 7 individuals (5 males and 2 females) were affected mean age at onset of 46.1 years (range, 29-57 years). performed whole exome sequencing on 4 1 unaffected members. Sanger-sequencing was then used to verify genotype all candidate variants remainder pedigree. Cultured cells transfected wild-type or mutant constructs characterize proteins interest....
Inverse associations of Parkinson's disease (PD) with cigarette smoking, coffee drinking, and nonsteroidal anti-inflammatory drug (NSAID) use have been reported individually, but their joint effects not examined. To quantify PD for the individual, two-way three-way combinations these factors, a case-control association study 1,186 patients 928 controls was conducted. The setting NeuroGenetics Research Consortium. Subjects completed structured questionnaire regarding coffee, NSAID...
Abstract: Defects in mitochondrial energy metabolism have beenimplicated several neurodegenerative disorders. Defective complex I(NADH:ubiquinone oxidoreductase) activity plays a key role Leber'shereditary optic neuropathy and, possibly, Parkinson's disease, but there isno way to assess this enzyme the living brain. We previously described anin vitro quantitative autoradiographic assay using[ 3 H]dihydrorotenone ([ H]DHR) binding I. Wehave now developed an vivo for I H]DHR after intravenous...
Summary Age of onset for Huntington's disease (HD) varies inversely with the length disease‐causing CAG repeat expansion in HD gene. A simple exponential regression model yielded adjusted R‐squared values 0.728 a large set Venezuelan kindreds and 0.642 North American, European, Australian sample (the MAPS cohort). We present evidence that two‐segment curve provides significantly better fit than regression. plot natural log‐transformed age against reveals this segmental relationship. This on...
After nigrostriatal dopaminergic denervation, the output nuclei of basal ganglia, medial globus pallidus and substantia nigra pars reticulata (Snr), become overactive, in part, because increased activity excitatory afferents from subthalamic nucleus (STN). Because STN uses glutamate as a transmitter, we examined whether there are regulatory changes receptor binding ganglia. Rats received unilateral 6-hydroxydopamine lesions forebrain bundle compacta that were confirmed by apomorphine-induced...
<h3>Objective</h3> To test the hypothesis that postural instability with falling (PIF) and freezing of gait (FOG) are distinct subtypes instability/gait disturbance (PIGD) form Parkinson9s disease (PD). <h3>Methods</h3> 499 PD subjects from NeuroGenetics Research Consortium were studied using logistic regression to examine, in a cross sectional analysis, predictors FOG PIF. Potential four spheres; demographic, clinical motor, non-motor genetic. <h3>Results</h3> PIF both associated greater...
Abstract Little is known about the epilepsy that often occurs in juvenile form of Huntington's disease (HD), but absent from adult‐onset form. The primary aim this study was to characterize seizures HD (JHD) subjects with regard frequency, semiology, defining EEG characteristics, and response antiepileptic agents. A multicenter, retrospective cohort identified by database query and/or chart review. Data on age onset, manifestations, number CAG repeats, presence or absence seizures, seizure...
The G2019S mutation in the LRRK2 gene is reportedly a common cause of familial Parkinson's disease (PD) and may also have significant role nonfamilial PD. objective this study was to assess carrier frequency PD patients from movement disorder clinics United States, stratified by family history, age at onset, geography; determine large well-characterized control population; examine segregation families patients; correlate genotype with clinical phenotype. One thousand four hundred twenty-five...
Primary progressive freezing gait (PPFG) is characterized by early and a stereotyped progression. Of nine patients fol1owed up for 6 to 16 years, two were diagnosed pathologically: pallidonigroluysian degeneration (PNLD) diffuse Lewy body disease. Four others evolved clinically into supranuclear palsy corticobasal degeneration. PPFG not distinct disorder but syndrome with diverse causes. Long-term follow-up (≥10 years) postmortem are required accurate diagnosis. PNLD may be the primary form of
To perform a comprehensive population genetic study of PARK2. PARK2 mutations are associated with juvenile parkinsonism, Alzheimer disease, cancer, leprosy, and diabetes mellitus, yet ironically, there has been no in control subjects; to resolve controversial association heterozygous Parkinson disease (PD) well-powered study.We studied 1,686 subjects (mean age 66.1 ± 13.1 years) 2,091 patients PD onset 58.3 12.1 years). We tested for deletions/multiplications/copy number variations (CNV)...
Abstract Our aim was to examine disease‐related and genetic correlates of the development psychotic symptoms in a large population patients with Parkinson's disease. We studied 500 disease from NeuroGenetics Research Consortium using logistic regression models. Predictors were demographic, clinical (motor/nonmotor features), genetic, measured as continuous or dichotomous variables. Continuous measures divided into population‐based tertiles. Results are given odds ratios (95% confidence...
Abnormalities of mitochondrial energy metabolism may play a role in normal aging and certain neurodegenerative disorders. In this regard, complex I the electron transport chain has received substantial attention, especially Parkinson's disease. The conventional method for studying been quantitation enzyme activity homogenized tissue samples. To enhance anatomic precision with which can be examined, we developed an autoradiographic assay rotenone site enzyme. [3H]dihydrorotenone ([3H]DHR)...
Abstract Point mutations and copy number variations in SNCA , the gene encoding α‐synuclein, cause familial Parkinson's disease (PD). A dinucleotide polymorphism (REP1) promoter may be a risk factor for common forms of PD. We studied 1,802 PD patients 2,129 controls from NeuroGenetics Research Consortium, using uniform, standardized protocols diagnosis, subject recruitment, data collection, genotyping, analysis. Three REP1 alleles (257, 259, 261 bp, with control frequencies 0.28, 0.65, 0.06)...
Identifying measures that are associated with the cytosine-adenine-guanine (CAG) expansion in individuals before diagnosis of Huntington disease (HD) has implications for designing clinical trials.To identify earliest features motor HD Prospective at Risk Observational Study (PHAROS).A prospective, multicenter, longitudinal cohort study was conducted 43 US and Canadian Group research sites from July 9, 1999, through December 17, 2009. Participants included 983 unaffected adults risk who had...