A5049402654- Genetics and Neurodevelopmental Disorders
- Autism Spectrum Disorder Research
- Telemedicine and Telehealth Implementation
- Dementia and Cognitive Impairment Research
- Mitochondrial Function and Pathology
- Congenital heart defects research
- Urban, Neighborhood, and Segregation Studies
- Healthcare Systems and Technology
- Health disparities and outcomes
- Endoplasmic Reticulum Stress and Disease
- Genetic Neurodegenerative Diseases
- Hip and Femur Fractures
- Stroke Rehabilitation and Recovery
- RNA regulation and disease
- Primary Care and Health Outcomes
- Traumatic Brain Injury Research
- Multiple Sclerosis Research Studies
- Neuroscience and Neuropharmacology Research
- Genomic variations and chromosomal abnormalities
- Intensive Care Unit Cognitive Disorders
- Neural and Behavioral Psychology Studies
- Blood Pressure and Hypertension Studies
- Housing Market and Economics
- Psychedelics and Drug Studies
- Health and Well-being Studies
University of Colorado Denver
2016-2025
Multidisciplinary Association for Psychedelic Studies
2025
University of Colorado Anschutz Medical Campus
1993-2025
New York University
2025
University of California, Los Angeles
1972-2015
Rush University Medical Center
2007-2015
Veterans Health Administration
1990-2015
University of Colorado System
2000-2013
University of Colorado Boulder
2002-2012
Alabama Agricultural and Mechanical University
2010
The authors report five elderly men with the fragile X premutation who had a progressive action tremor associated executive function deficits and generalized brain atrophy. These individuals elevated mental retardation 1 gene (<i><i>FMR1</i></i>) messenger RNA normal or borderline levels of <i>FMR1</i> protein. propose that elevations may be causative for neurodegenerative syndrome in subgroup premutation.
Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder that affects carriers, principally males, of premutation alleles (55–200 CGG repeats) the fragile X mental retardation 1 (FMR1) gene. Clinical features FXTAS include progressive intention tremor and gait ataxia, accompanied by characteristic white matter abnormalities on MRI. The neuropathological hallmark intranuclear inclusion, present in both neurons astrocytes throughout CNS. Prior to current...
The purpose of this article is to present a taxonomy for telemedicine. field has markedly grown, with an increasing number applications, variety technologies, and newly introduced terminology. A would serve bring conceptual clarity burgeoning set alternatives in-person healthcare delivery. starts brief discussion the importance as information management strategy improve knowledge sharing, facilitate research policy initiatives, provide some guidance orderly development We context...
Objective : To measure the prevalence of cobalamin (vitamin B 12 ) deficiency in geriatric outpatients as documented by both low serum levels and elevations methylmalonic acid homocysteine to determine response treatment. Prospective study screening elderly subjects for using radiodilution assays well stable isotope dilution gas chromatography‐mass spectrometry assays. In patients with ≤300 pg/mL, treatment group and/or >3 standard deviations (SD) above mean normals was compared that...
Abstract Fragile X‐associated tremor/ataxia syndrome (FXTAS) is generally considered to be uncommon in older female carriers of premutation alleles (55–200 CGG repeats) the fragile X mental retardation 1 ( FMR1 ) gene; however, neither prevalence, nor nature clinical phenotype, has been well characterized carriers. In this study, we evaluated 146 (mean, 42.3 years; range, 20–75 years) with and without core features FXTAS (tremor; gait ataxia), 69 age‐matched controls 45.8 21–78 years)....
A recently published randomized controlled trial compared single-dose psilocybin with niacin in conjunction psychotherapy participants cancer-related psychiatric distress. Results suggested that psilocybin-assisted facilitated improvements and existential distress, quality of life, spiritual well-being up to seven weeks prior the crossover. At 6.5-month follow-up, after crossover, 60-80% continued meet criteria for clinically significant antidepressant or anxiolytic responses.The present...
Background: Posttraumatic stress disorder often does not resolve after conventional psychotherapies or pharmacotherapies. Pilot studies have reported that 3,4-methylenedioxymethamphetamine (MDMA) combined with psychotherapy reduces posttraumatic symptoms. Aims: This pilot dose response trial assessed efficacy and safety of MDMA-assisted across multiple therapy teams. Methods: Twenty-eight people chronic were randomized in a double-blind comparison two active doses (100 125 mg) low (40 MDMA...
OBJECTIVES: The purpose of this study was to evaluate the contribution executive cognitive functions self‐reported and observed performance activities daily living instrumental living. DESIGN: These data were collected as part a cross‐sectional survey community‐dwelling older persons, using statistical sampling, in two‐county area southern Colorado. SETTING: Participants interviewed administered measures general cognition, depression, functioning, self‐care activities, either their homes or...
Abstract Until recently, individuals with premutation alleles (55–200 CGG repeats) of the fragile X mental retardation 1 ( FMR1 ) gene were believed to be psychologically unaffected. However, recent documentation abnormal elevation mRNA, discovery X‐associated tremor/ataxia syndrome (FXTAS), and reports psychiatric disorders in children adults have suggested a pathogenic gene–brain–behavior mechanism. In large collaborative study, 68 men 144 women completed psychological symptoms checklist...
Telemedicine technology embodies the electronic acquisition, processing, dissemination, storage, retrieval, and exchange of information for purpose promoting health, preventing disease, treating sick, managing chronic illness, rehabilitating disabled, protecting public health safety.Telemedicine systems consist collaborative networks, facilities, organizations dedicated to these objectives.Over past several decades, telemedicine have demonstrated capacity do following:• Improve access all...
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a recently described, underrecognized neurodegenerative disorder of aging fragile X mental retardation 1 (FMR1) premutation carriers, particularly men. Core motor features are action tremor, gait ataxia, and parkinsonism. Carriers have expanded CGG repeats (55 to 200); larger expansions cause syndrome, the most common heritable autism. This study determines whether repeat length correlates with severity type dysfunction in...
Fragile X-associated tremor/ataxia syndrome (FXTAS) develops in a subset of fragile X premutation carriers and involves gait ataxia, action tremor, Parkinsonism, peripheral neuropathy, autonomic disorders, cognitive impairment. The study was designed to define the nature deficits affecting male with without FXTAS. A sample 109 men underwent motor, cognitive, genetic, neurologic testing, as well brain magnetic resonance imaging. Subjects were classified into 3 groups: (a) asymptomatic...
Article Abstract Objective: The authors describe and quantify the neuropsychiatric symptoms present in a cohort of males with fragile X mental retardation 1 (FMR1) premutation allele who have developed X-associated tremor/ataxia syndrome (FXTAS). Method: Fourteen male carriers FMR1 had clinical manifestations FXTAS 14 age- education-matched controls were assessed Neuropsychiatric Inventory (NPI), formal cognitive testing, genetic analysis. Results: Males significantly higher total NPI scores...
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder occurring in male and rare female carriers of premutation expansion (55 to 200 CGG repeats) the fragile X mental retardation 1 (FMR1) gene.Volumetric MRI studies, clinical staging, cognitive testing, molecular analysis were conducted 15 affected by FXTAS (age 59.5 +/- 10.3 years), 20 unaffected (43.3 11.2 11 genetically normal controls (51.0 36 (65.0 5.6 25 (53.5 12.5 39 (58.0 15.0 years). Female...