A5013956389- Pain Mechanisms and Treatments
- Botulinum Toxin and Related Neurological Disorders
- Hereditary Neurological Disorders
- Peripheral Neuropathies and Disorders
- Genetic Neurodegenerative Diseases
- Ion channel regulation and function
- Musculoskeletal pain and rehabilitation
- Parkinson's Disease Mechanisms and Treatments
- Peripheral Nerve Disorders
- Cancer Treatment and Pharmacology
- Muscle Physiology and Disorders
- Pain Management and Treatment
- Mitochondrial Function and Pathology
- Neurogenetic and Muscular Disorders Research
- Myofascial pain diagnosis and treatment
- Ocular Surface and Contact Lens
- Cardiomyopathy and Myosin Studies
- Nerve injury and regeneration
- Fibromyalgia and Chronic Fatigue Syndrome Research
- Cardiac electrophysiology and arrhythmias
- Myasthenia Gravis and Thymoma
- Neurological diseases and metabolism
- Neurological disorders and treatments
- Chemotherapy-related skin toxicity
- Venomous Animal Envenomation and Studies
Maastricht University Medical Centre
2016-2025
Maastricht University
2015-2024
University Medical Center
2013-2024
Fondazione IRCCS Istituto Neurologico Carlo Besta
2011-2023
Erasmus MC
2021-2023
University of Michigan
2023
Aarhus University Hospital
2023
Parent Project Onlus
2023
University College Dublin
2022
Johns Hopkins University
2017-2021
Small nerve fiber neuropathy (SFN) often occurs without apparent cause, but no systematic genetic studies have been performed in patients with idiopathic SFN (I-SFN). We sought to identify a basis for I-SFN by screening biopsy-confirmed mutations the SCN9A gene, encoding voltage-gated sodium channel Na(V)1.7, which is preferentially expressed small diameter peripheral axons.Patients referred possible I-SFN, who met criteria of ≥2 SFN-related symptoms, normal strength, tendon reflexes,...
The diagnostic reliability of skin biopsy in small fiber neuropathy depends on the availability normative reference values. We performed a multicenter study to assess values intraepidermal nerve (IENF) density at distal leg stratified by age deciles. Eight laboratories from Europe, USA, and Asia submitted eligible data. Inclusion criteria raw data were healthy subjects 18 years or older; known gender; 3-mm 10-cm above lateral malleolus; bright-field immunohistochemistry protocol,...
Painful peripheral neuropathy often occurs without apparent underlying cause. Gain-of-function variants of sodium channel Na(v)1.7 have recently been found in ∼30% cases idiopathic painful small-fiber neuropathy. Here, we describe mutations Na(v)1.8, another that is specifically expressed dorsal root ganglion (DRG) neurons and nerve axons, patients with Seven Na(v)1.8 were identified 9 subjects within a series 104 predominantly Three met criteria for potential pathogenicity based on...
To develop a patient-based, linearly weighted scale that captures activity and social participation limitations in patients with Guillain-Barré syndrome (GBS), chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), gammopathy-related polyneuropathy (MGUSP).A preliminary Rasch-built Overall Disability Scale (R-ODS) containing 146 items was constructed, based on the WHO International Classification of Functioning, Health, literature search, patient interviews. The R-ODS assessed...
Sodium channel Nav1.9 is expressed in peripheral nociceptive neurons, as well visceral afferents, and has been shown to act a threshold channel. Painful neuropathy represents significant public health challenge may involve gain-of-function variants sodium channels that are preferentially sensory neurons. Although of Nav1.7 Nav1.8 have recently found painful small fibre neuropathy, the aetiology many cases remains unknown. We evaluated 459 patients who were referred for possible confirmed...
OBJECTIVE Painful diabetic peripheral neuropathy (PDPN) is a common complication of diabetes mellitus. Unfortunately, pharmacological treatment often partially effective or accompanied by unacceptable side effects, and new treatments are urgently needed. Small observational studies suggested that spinal cord stimulation (SCS) may have positive effects. RESEARCH DESIGN AND METHODS We performed multicenter randomized clinical trial in 36 PDPN patients with severe lower limb pain not responding...
Small fiber neuropathy is a painful sensory nervous system disorder characterized by damage to unmyelinated C- and thinly myelinated Aδ- nerve fibers, clinically manifested burning pain in the distal extremities dysautonomia. The clinical onset adulthood suggests time-dependent process. mechanisms that underlie injury small are incompletely understood, although roles for energetic stress have been suggested. In present study, we report degeneration of neurites from dorsal root ganglia...
<b>Background:</b> Intraepidermal nerve fiber density (IENFD) is considered a good diagnostic tool for small neuropathy (SFN). <b>Objectives:</b> To assess stratified normative values IENFD and determine the reliability validity of in sarcoidosis. <b>Methods:</b> was assessed 188 healthy volunteers 72 patients with sarcoidosis (n = 58 SFN symptoms, n 14 without symptoms). Healthy controls were (for age sex), resulting 6 groups (20–29, 30–39, … up to ≥70 years) containing at least 15 men...
The Medical Research Council grading system has served through decades for the evaluation of muscle strength and been recognized as a cardinal feature daily neurological, rehabilitation general medicine examination patients, despite being respectfully criticized due to unequal width its response options. No study systematically examined, modern psychometric approach, whether physicians are able properly use grades. objectives this were: (i) investigate physicians' ability discriminate among...
The Jamar dynamometer has been widely used in various chronic illnesses and demonstrated its strength as a potential prognostic indicator. Various stratified normative values have published using different methodologies, leading to conflicting results. No study statistical techniques considering the non-Gaussian distribution of obtained grip (GS) values. GS was assessed 720 healthy participants, subdivided into seven age decade groups consisting at least 50 men women each. Normative (median...
Myotonic dystrophy type 1 (DM1) is one of the most variable inherited human disorders. It characterized by involvement multiple tissues and caused expansion a highly unstable CTG repeat. Variation in disease severity partially accounted for number repeats inherited. However, basis tissue-specific symptoms unknown. We have determined that an unusual Dutch family co-segregating DM1, Charcot-Marie-Tooth neuropathy, encephalopathic attacks early hearing loss, carries complex variant repeat at...
Abstract Complex regional pain syndrome (CRPS), formerly known as reflex sympathetic dystrophy is a with an unclear pathophysiology and unpredictable clinical course. The disease often therapy resistant, the natural course not always favorable. diagnosis of CRPS based on signs symptoms derived from medical history physical examination. Pharmacological management rehabilitation limb function are main pillars should be started early possible. If, however, there no improvement persistent severe...
<h3>Objective:</h3> To determine the minimum incidence and prevalence rates of small-fiber neuropathy (SFN) in a well-defined region southern part Netherlands. <h3>Methods:</h3> In this cross-sectional study with retrospective data collection, we used patients diagnosed pure SFN at our Small Fiber Neuropathy Center between January 2006 December 2011 to calculate rates. <h3>Results:</h3> A total 88 were (mean age 56.9 years, SD 11.8, range 34–81; 44.3% women, 55.7% men). The overall over 2010...
ABSTRACT Introduction : The impact of small‐fiber neuropathy (SFN) on patients' quality life (QOL) has not been studied extensively. Our aim was to determine the SFN QOL and examine possible determinants. Methods We examined a total 265 patients diagnosed with SFN. Symptoms Inventory Questionnaire (SFN‐SIQ), pain Visual Analog Scale (VAS), generic SF‐36 Health Survey were assessed. Regression studies undertaken evaluate determinants functioning. Results demonstrated severe overall reduction...
Idiopathic small-fiber neuropathy (I-SFN), clinically characterized by burning pain in distal extremities and autonomic dysfunction, is a disorder of small-caliber nerve fibers unknown etiology with limited treatment options. Functional variants voltage-gated sodium channel Na<sub>v</sub>1.7, encoded <i>SCN9A</i>, have been identified approximately one-third I-SFN patients. These render dorsal root ganglion (DRG) neurons hyperexcitable. Sodium Na<sub>v</sub>1.8, <i>SCN10A</i>, preferentially...
<h3>Objective:</h3> Achieving long-term remission after a limited more intense treatment period would prevent prolonged use of corticosteroids or IV immunoglobulin (IVIg) in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). In this prospective cohort study we present follow-up data on patients included multicenter randomized controlled trial comparing 6 monthly pulses dexamethasone with 8 months daily prednisolone. <h3>Methods:</h3> Treatment effect was assessed the...