A5103154751- Hereditary Neurological Disorders
- Botulinum Toxin and Related Neurological Disorders
- Genetic Neurodegenerative Diseases
- Pain Mechanisms and Treatments
- Peripheral Neuropathies and Disorders
- Neurological diseases and metabolism
- Neurogenetic and Muscular Disorders Research
- Cancer Treatment and Pharmacology
- Peripheral Nerve Disorders
- Cerebral Palsy and Movement Disorders
- Oral and gingival health research
- Mitochondrial Function and Pathology
- Parkinson's Disease Mechanisms and Treatments
- Hearing Loss and Rehabilitation
- RNA regulation and disease
- Advanced Materials and Mechanics
- Musculoskeletal pain and rehabilitation
- Pharmacological Effects and Toxicity Studies
- Metabolism and Genetic Disorders
- Structural Analysis and Optimization
- Suicide and Self-Harm Studies
- Glycogen Storage Diseases and Myoclonus
- Genetics and Neurodevelopmental Disorders
- Nuclear Structure and Function
- HIV Research and Treatment
University of Rochester
2016-2025
University of Rochester Medical Center
2015-2024
Regensburg University of Applied Sciences
2023-2024
National Hospital for Neurology and Neurosurgery
2023
Children's Hospital at Westmead
2017-2023
The University of Sydney
2017-2023
University College London
2016-2023
Children's Hospital of Philadelphia
2017-2023
University of Pennsylvania
2017-2023
Great Ormond Street Hospital
2023
The Charcot‐Marie‐Tooth neuropathy score (CMTNS) is a reliable and valid composite comprising symptoms, signs, neurophysiological tests, which has been used in natural history studies of CMT1A CMT1X as an outcome measure treatment trials CMT1A. Following international workshop on measures disease (CMT), the CMTNS was modified to attempt reduce floor ceiling effects standardize patient assessment, aiming improve its sensitivity for detecting change over time effect intervention. After...
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,...
<h3>Background</h3> The treatment of painful diabetic polyneuropathy (DPN) is often inadequate and frequently limited by the systemic adverse effects medications, necessitating evaluation novel treatments. <h3>Objective</h3> To evaluate effectiveness, tolerability, impact on quality life 5% lidocaine patch in polyneuropathy. <h3>Design</h3> Open-label, flexible-dosing, 3-week study with a 5-week extension. <h3>Setting</h3> Outpatient clinics clinical research centers. <h3>Patients</h3>...
To describe the clinical and laboratory features of a painful non-length dependent, small fibre ganglionopathy (SFG).The syndrome generalised SFG with early involvement face, trunk or proximal limbs is not well recognised contrasts burning feet neuropathy (SFN) classical large sensory ganglionopathy.Retrospective case review including skin biopsies from four neuromuscular centres. Patients pre-existing diseases associated ganglionopathies were excluded.12 men 11 women, an average age 50...
We aimed to characterize genotype–phenotype correlations and establish baseline clinical data for peripheral neuropathies caused by mutations in the myelin protein zero (MPZ) gene. MPZ are second leading cause of Charcot–Marie–Tooth disease type 1. Recent research makes trials patients with a realistic possibility. However, severity varies different natural history on progression is sparse. present cross-sectional begin define phenotypic spectrum these mutations. A cohort gene was identified...
Abstract Mitofusin-2 (MFN2) is one of two ubiquitously expressed homologous proteins in eukaryote cells, playing a critical role mitochondrial fusion. Mutations MFN2 (most commonly autosomal dominant) cause Charcot-Marie-Tooth disease type 2A (CMT2A), the commonest axonal form CMT, with significant allelic heterogeneity. Previous, moderately-sized, cross sectional genotype-phenotype studies CMT2A have described phenotypic spectrum disease, but longitudinal natural history are lacking. In...
We evaluated incorporation of the quantitative sudomotor axon reflex test (QSART) into diagnostic criteria for small fiber neuropathy (SFN) as an addition to sensory testing (QST) and intraepidermal nerve density (IENFD) testing.One hundred one patients with clinically suspected SFN underwent QSART, QST, skin biopsy. The yield existing in these was compared incorporating QSART. new combined were evaluated.SFN diagnosed 38 101 (38%) using current criteria. Addition QSART resulted increased 67...
Spinal muscular atrophy is a disorder of lower motor neurons, most commonly caused by recessive mutations in SMN1 on chromosome 5q. Cases without are subclassified according to phenotype. atrophy, extremity-predominant, characterized limb muscle weakness and wasting, associated with reduced numbers lumbar neurons DYNC1H1, which encodes microtubule protein the dynein-dynactin complex one its cargo adaptors, BICD2. We have now identified 32 patients BICD2 from nine different families,...
IMPORTANCEDisease severity of childhood Charcot-Marie-Tooth disease (CMT) has not been extensively characterized, either within or between types CMT to date.OBJECTIVE To assess the variability in a large cohort children and adolescents with CMT.
Objective To determine the rate of disease progression in a longitudinal natural history study children with Charcot‐Marie‐Tooth (CMT) disease. Methods Two hundred six (103 female) participants aged 3 to 20 years enrolled Inherited Neuropathies Consortium were assessed at baseline and 2 years. Demographic, anthropometric, diagnostic information collected. Disease was CMT Pediatric Scale (CMTPedS), reliable Rasch‐built linearly weighted disability scale evaluating fine gross motor function,...
ObjectiveEvaluate efficacy and safety of tanezumab, a humanized monoclonal antibody against nerve growth factor, in neuropathic pain.
ABSTRACT Introduction: Foot deformities are frequent complications in Charcot–Marie–Tooth disease (CMT) patients, often requiring orthopedic surgery. However, there no prospective, randomized studies on surgical management, and is variation the approaches among centers both within between countries. Methods: In this study we assessed frequency of foot surgery patients recruited into Inherited Neuropathies Consortium (INC). We also designed a survey addressed to surgeons at INC determine...
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...
Abstract We investigated the associations of baseline epidermal nerve fiber (ENF) densities and morphology (percent ENF swellings) quantitative sensory testing (QST) with clinically defined human immunodeficiency virus (HIV)‐associated distal polyneuropathy (DSP) whether these measures are predictive development symptomatic DSP over time. Fifty‐seven HIV‐infected subjects without 19 controls participated. Mean were lower at leg proximal thigh in asymptomatic or than controls. did not differ...
<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...
Background: Charcot-Marie-Tooth (CMT) disease is a hereditary motor-sensory neuropathy that often associated with cavovarus foot deformity. Limited evidence exists for the orthopedic management of these patients. Our goal was to develop consensus guidelines based upon clinical experiences and practices an expert group ankle surgeons. Methods: Thirteen experienced, board-certified surgeons neurologist specializing in CMT convened at 1-day meeting. The discussed surgical considerations...
Abstract Recessive SH3TC2 variants cause Charcot-Marie-Tooth disease type 4C (CMT4C). CMT4C is typically a sensorimotor demyelinating polyneuropathy, marked by early onset spinal deformities, but its clinical characteristics and severity are quite variable. Clear relationships between pathogenic the spectrum of manifestations to date lacking. Gene replacement therapy has been shown ameliorate phenotype in mouse model CMT4C, emphasizing need for natural history studies inform trial readiness....