A5066982039- Hereditary Neurological Disorders
- Botulinum Toxin and Related Neurological Disorders
- Neurological diseases and metabolism
- Genetic Neurodegenerative Diseases
- Pain Mechanisms and Treatments
- RNA regulation and disease
- Metabolism and Genetic Disorders
- Endoplasmic Reticulum Stress and Disease
- Sphingolipid Metabolism and Signaling
- Peripheral Neuropathies and Disorders
- Neurological Disorders and Treatments
- Bone and Joint Diseases
- Cellular transport and secretion
- Parathyroid Disorders and Treatments
- CNS Lymphoma Diagnosis and Treatment
- Orthopedic Surgery and Rehabilitation
- Peripheral Nerve Disorders
- Trauma and Emergency Care Studies
- Sarcoidosis and Beryllium Toxicity Research
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Full-Duplex Wireless Communications
- Blood properties and coagulation
- Antenna Design and Analysis
- Polyomavirus and related diseases
- Skin and Cellular Biology Research
University of Colorado Anschutz Medical Campus
2020-2024
University of Michigan
2024
University of Colorado Denver
2017-2023
Harvard University
2019-2022
University of Colorado Hospital
2020-2022
University of Colorado Health
2020
Connecticut Children's Medical Center
2020
University of Iowa Hospitals and Clinics
2020
Children's Hospital at Westmead
2020
The University of Sydney
2020
The international Inherited Neuropathy Consortium (INC) was created with the goal of obtaining much needed natural history data for patients Charcot-Marie-Tooth (CMT) disease. We analysed clinical and genetic from in INC to determine distribution CMT subtypes impairment associated them. 1652 evaluated at 13 centres. pathogenic mutations were determined. disease burden all assessed by Score (CMTNS) Examination (CMTES). 997 (60.4%) received a diagnosis. most common CMT1A/PMP22 duplication,...
To evaluate the safety and efficacy of l-serine in humans with hereditary sensory autonomic neuropathy type I (HSAN1).In this randomized, placebo-controlled, parallel-group trial open-label extension, patients aged 18-70 years symptomatic HSAN1 were randomized to (400 mg/kg/day) or placebo for 1 year. All participants received during second The primary outcome measure was Charcot-Marie-Tooth Neuropathy Score version 2 (CMTNS). Secondary outcomes included plasma sphingolipid levels, epidermal...
Abstract Charcot-Marie-Tooth disease (CMT) due to GJB1 variants (CMTX1) is the second most common form of CMT. It an X-linked disorder characterized by progressive sensory and motor neuropathy with males affected more severely than females. Many reported remain classified as uncertain significance (VUS). In this large, international, multicentre study we prospectively collected demographic, clinical genetic data on patients CMT associated variants. Pathogenicity for each variant was defined...
<h3>Objective:</h3> To extend the phenotypic description of Charcot-Marie-Tooth disease (CMTX1) and to draw new genotype-phenotype relationships. <h3>Methods:</h3> Mutations in <i>GJB1</i> cause main X-linked form CMTX (CMTX1). We report cross-sectional data from 160 patients (from 120 different families, with 89 mutations) seen at Inherited Neuropathies Consortium centers. <h3>Results:</h3> evaluated 87 males who had a mean age 41 years (range 10–78 years) 73 females 46 15–84 years)....
<h3>Objective</h3> To evaluate the sensitivity of Rasch analysis-based, weighted Charcot-Marie-Tooth Neuropathy and Examination Scores (CMTNS-R CMTES-R) to clinical progression in patients with disease type 1A (CMT1A). <h3>Methods</h3> Patients CMT1A from 18 sites Inherited Neuropathies Consortium were evaluated between 2009 2018. Weighted CMTNS CMTES modified category responses developed analysis standard scores. Change baseline for CMTNS-R CMTES-R was estimated longitudinal regression...
Hereditary sensory and autonomic neuropathy type 1 (HSAN1) is most commonly caused by missense mutations in SPTLC1. In this study we mapped symptom progression compared the utility of outcomes.We administered retrospective surveys symptoms analyzed results nerve conduction, function testing (AFT), PGP9.5-immunolabeled skin biopsies.The first were universally occurred at a median age 20 years (range 14-54 years). The onset weakness, ulcers, pain, balance problems followed sequentially. Skin...
Objective The paucity of longitudinal natural history studies in MPZ neuropathy remains a barrier to clinical trials. We have completed study patients with neuropathies across 13 sites the Inherited Neuropathies Consortium. Methods Change Charcot–Marie–Tooth Examination Score (CMTES) and Rasch modified CMTES (CMTES‐R) were evaluated using regression over 5‐year period subjects neuropathy. Data from 139 examined. Results average baseline CMTES‐R 10.84 (standard deviation [SD] = 6.0, range...
Abstract Background and Aims The lack of easily measurable biomarkers remains a challenge in executing clinical trials for diabetic neuropathy (DN). Plasma Neurofilament light chain (NFL) concentration is promising biomarker immune‐mediated neuropathies. Longitudinal studies evaluating NFL DN have not been performed. Methods A nested case–control study was performed on participants with youth‐onset type 2 diabetes enrolled the prospective Treatment Options Type Diabetes Adolescents Youth...
Acute liver failure (ALF) has a mortality rate of 50% to 90%.1 Acetaminophen overdose accounts for nearly cases and is the commonest cause ALF in United States Kingdom.2 Cerebral edema among most serious complications one leading causes death.1 Cranial MRI findings associated with are poorly characterized. We report clinical radiographic patient acetaminophen-induced discuss its potential pathophysiologic mechanisms. ### Case report. A 28-year-old man was brought emergency room...
Abstract Background Caused by duplications of the gene encoding peripheral myelin protein 22 (PMP22), Charcot–Marie–Tooth disease type 1A (CMT1A) is most common hereditary neuropathy. Despite this shared genetic origin, there considerable variability in clinical severity. It hypothesized that modifiers contribute to heterogeneity, identification which may reveal novel therapeutic targets. In study, we present a comprehensive analysis examination results from 1564 CMT1A patients sourced...
A survey of graduating neurology residents conducted in 2000 showed that many had limited experience and comfort treating with tissue-type plasminogen activator (tPA). We examined changes residents' during the past decade.A 12-item was sent to US their final year training. Items confidence assessment acute stroke patient use tPA for treatment. Questions were worded identically 2010 surveys, responses compared between two.Of 491 residents, 286 (58%) responded. There a significant increase...
Objective: To evaluate the safety and efficacy of L-serine in patients with HSAN1. Background: HSAN1 is an autosomal dominant disorder caused by mutations to serine palmitoyl-CoA transferase. Mutations induce a permanent shift substrate preference from alanine thereby forming class neurotoxic 1-deoxysphingolipids (1-deoxySL). We report two-year, delayed-start placebo-controlled clinical trial oral (400 mg/kg/d) Design/Methods: Eighteen prominent sensory loss, foot ulcers or shooting pains...
Abstract Krabbe disease is a rare autosomal recessive neurodegenerative disease, caused by mutations in the GALC gene, which encodes for lysosomal enzyme galactocerebrosidase. Typical clinical manifestations of include psychomotor deterioration, visual loss, seizures, and spasticity, that result from central nervous system demyelination. We report case 35‐year‐old male with who presented adulthood isolated severe, upper extremity predominant demyelinating sensorimotor polyneuropathy did not...
Abstract Objective To estimate the prevalence and significance of cranial nerve (CN) imaging abnormalities in patients with hereditary neuropathy discuss clinical implications. Methods We retrospectively analyzed data from at four tertiary academic medical centers diagnoses who had undergone gadolinium‐enhanced magnetic resonance (MRI) brain or skull base between 2004 2018. MRI scans, as well computed tomography when available, were reviewed bivariable analysis was performed to identify...