Margherita Capasso
A5016431034- Peripheral Neuropathies and Disorders
- Hereditary Neurological Disorders
- Amyotrophic Lateral Sclerosis Research
- Neurological diseases and metabolism
- Botulinum Toxin and Related Neurological Disorders
- Nerve injury and regeneration
- Neurogenetic and Muscular Disorders Research
- Peripheral Nerve Disorders
- Genetic Neurodegenerative Diseases
- Ion channel regulation and function
- Endoplasmic Reticulum Stress and Disease
- Multiple Sclerosis Research Studies
- Parkinson's Disease Mechanisms and Treatments
- Prion Diseases and Protein Misfolding
- Epilepsy research and treatment
- Pain Mechanisms and Treatments
- Diabetes Management and Research
- Inflammatory Myopathies and Dermatomyositis
- Diabetes, Cardiovascular Risks, and Lipoproteins
- Cardiac electrophysiology and arrhythmias
- Alzheimer's disease research and treatments
- Caveolin-1 and cellular processes
- Myasthenia Gravis and Thymoma
- Cardiomyopathy and Myosin Studies
- Takotsubo Cardiomyopathy and Associated Phenomena
IRCCS Ospedale San Raffaele
2021-2022
Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele
2021-2022
Advanced Micro Devices (Canada)
2022
University of Campania "Luigi Vanvitelli"
2021-2022
Ospedale SS. Annunziata
2002-2021
University of Chieti-Pescara
2007-2019
Creative Commons
2015
University of Cagliari
2010
University of Turin
2010
Istituti di Ricovero e Cura a Carattere Scientifico
2006
Objective To identify shared polygenic risk and causal associations in amyotrophic lateral sclerosis (ALS). Methods Linkage disequilibrium score regression Mendelian randomization were applied a large‐scale, data‐driven manner to explore genetic correlations relationships between >700 phenotypic traits ALS. Exposures consisted of publicly available genome‐wide association studies (GWASes) summary statistics from MR Base LD‐hub . The outcome data came the recently published ALS GWAS...
<h3>Objective</h3> To electrophysiologically classify an Italian Guillain–Barré syndrome (GBS) population into demyelinating and axonal subtypes, to investigate how serial recordings changed the classification underline pitfalls in electrodiagnosis of GBS subtypes. <h3>Methods</h3> The authors applied two current electrodiagnostic criteria sets for subtypes 55 patients who had at least three motor sensory nerves. <h3>Results</h3> At first test, was almost identical with both criteria: 65–67%...
<b><i>Objective:</i></b> To report two patients with an acute exclusively motor neuropathy conduction blocks. <b><i>Methods:</i></b> Serial electrophysiologic studies were carried out. <b><i>Results:</i></b> Two developed symmetric proximal and distal weakness without sensory abnormalities after enteritis. Tendon reflexes normal in one patient brisk the other. One had high titer immunoglobulin G to GD1a GM1, other GD1b, GD1a, GM1 a recent <i>Campylobacter jejuni</i> infection....
A neuroprotective effect of lithium in amyotrophic lateral sclerosis (ALS) has been recently reported. We performed a multicenter trial with carbonate to assess its tolerability, safety, and efficacy patients ALS, comparing 2 different target blood levels (0.4-0.8 mEq/L, therapeutic group [TG], vs 0.2-0.4 subtherapeutic [STG]).The study was multicenter, single-blind, randomized, dose-finding trial, conducted from May 2008 November 2009 21 Italian ALS centers. The registered the public...
Strong evidence suggests that endoplasmic reticulum stress plays a critical role in the pathogenesis of amyotrophic lateral sclerosis (ALS) through altered regulation proteostasis. Robust preclinical findings demonstrated guanabenz selectively inhibits stress-induced eIF2α-phosphatase, allowing misfolded protein clearance, reduces neuronal death and prolongs survival vitro vivo models. However, its safety efficacy patients with ALS are unknown. To address these issues, we conducted...
<h3>Background</h3> Acute motor axonal neuropathy (AMAN) and acute sensory (AMSAN) are due to an antiganglioside antibody mediated attack, thought be restricted fibres in AMAN. Sensory symptoms minor conduction abnormalities, however, have been reported some AMAN patients. <h3>Objective</h3> To verify whether truly spared AMSAN represent a continuum. <h3>Methods</h3> Serial studies 13 three patients were reviewed. evaluate the variation nerve action potential (SNAP) amplitude serial...
To assess the efficacy of recombinant human erythropoietin (rhEPO) in amyotrophic lateral sclerosis (ALS).Patients with probable laboratory-supported, or definite ALS were enrolled by 25 Italian centres and randomly assigned (1:1) to receive intravenous rhEPO 40,000 IU placebo fortnightly as add-on treatment riluzole 100 mg daily for 12 months. The primary composite outcome was survival, tracheotomy >23 h non-invasive ventilation (NIV). Secondary outcomes ALSFRS-R, slow vital capacity (sVC)...
To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, performed rare variant burden analysis 1,138 index familial 19,494 Through both approaches, identified kinesin family member 5A (KIF5A) as gene ALS. Interestingly, mutations predominantly in the N-terminal motor domain KIF5A are causative for neurodegenerative diseases, hereditary spastic paraplegia...
Abstract We evaluated serum glial fibrillary acidic protein (GFAP) levels by enzyme‐linked immunosorbent assay (ELISA) in controls ( n = 30) and patients with chronic sensory‐motor axonal neuropathy (CSMAN) 30), inflammatory demyelinating polyneuropathy (CIDP) multifocal motor (MMN) primary muscular spinal atrophy (PMSA) 15). GFAP levels, expressed as optical density, were increased CSMAN (median 1.05) compared to 0.41; P < 0.05) CIDP 0.53, 0.05). They also PMSA 0.99) MMN 0.66; To...
Abstract In two patients with the pharyngeal–cervical–brachial variant (PCB) of Guillain–Barré syndrome (GBS), low amplitude distal compound muscle action potentials and partial motor conduction blocks normalized without development excessive temporal dispersion within 4 weeks. Sensory nerve significantly improved in or, when absent, rapidly became recordable at follow‐up. Besides axonal degeneration, PCB is characterized by reversible failure both sensory fibers continuous spectrum GBS...
Introduction Recent studies suggest that endoplasmic reticulum stress may play a critical role in the pathogenesis of amyotrophic lateral sclerosis (ALS) through an altered regulation proteostasis, cellular pathway-balancing protein synthesis and degradation. A key mechanism is thought to be dephosphorylation eIF2α, factor involved initiation translation. Guanabenz alpha-2-adrenergic receptor agonist safely used past treat mild hypertension now orphan drug. pharmacological action recently...
Abstract Persistent elevation of serum creatine kinase (CK) in individuals with normal neurological and laboratory examinations has been called idiopathic hyperCKemia (IH). IH reported rare families was recently ascribed to caveolin‐3 gene mutations. We retrospectively found that familial 13 28 subjects whom CK measured relatives. These had a total 41 IH, including six over 60 years age. In eight there male‐to‐male transmission higher prevalence males hyperCKemia. Muscle biopsy one member...
Muscle fiber inexcitability and myosin loss underlie weakness in critical illness myopathy (CIM). Nitric oxide (NO) takes part the maintenance of muscle resting potential and, pathological conditions accompanied by oxidative stress, may damage proteins through peroxynitrite generation. Sepsis other associated with CIM differentially affect expression NO synthases (NOSs), so that both downregulation upregulation excessive production can be hypothesized. In six patients we studied NOS1, NOS2,...
Abstract Extreme carpal tunnel syndrome (CTS) is characterized by severe thenar atrophy, plegia of the abductor pollicis brevis (APB), fixed sensory deficit in median nerve distribution, and absence motor responses on electrophysiological examination. In this study we report long‐term follow‐up 37 patients with extreme CTS. Of 24 idiopathic CTS, 9 were untreated, 3 received conservative treatment. At follow‐up, none these showed objective or improvement, all but 1 still reported positive...
Background and purpose Akinetic crisis ( AC ) is the most severe possibly lethal complication of parkinsonism. It occurs with an incidence 3‰ Parkinson's disease patients per year, but it not known whether genetically determined parkinsonism more or less susceptible to this complication. Methods In a cohort 756 parkinsonian outcome was prospectively assessed. A total 142 were tested for genetic mutations because familial parkinsonism, 20 resulted positive: in four mutation definitely...
Akinetic crisis (AC) is akin to neuroleptic malignant syndrome (NMS) and the most severe possibly lethal complication of parkinsonism. Diagnosis today based only on clinical assessments yet often marred by concomitant precipitating factors. Our purpose evidence that AC NMS can be reliably evidenced FP/CIT single-photon emission computerized tomography (SPECT) performed during crisis. Prospective cohort evaluation in 6 patients. In 5 patients, affected Parkinson disease or Lewy body dementia,...