Wolfgang N. Löscher
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View article: Postural orthostatic tachycardia syndrome is the most frequent cardiovascular autonomic disorder following COVID-19 infection or vaccination
Postural orthostatic tachycardia syndrome is the most frequent cardiovascular autonomic disorder following COVID-19 infection or vaccination Open
Background Cardiovascular autonomic disorders (CAD) were described following COVID-19 infection and vaccination, but previous reports were limited in size and follow-up. Here, we aimed to investigate the type and frequency of newly diagnos…
View article: Efficacy and safety of risdiplam in adults with 5q-associated spinal muscular atrophy: a nationwide observational cohort study in Austria
Efficacy and safety of risdiplam in adults with 5q-associated spinal muscular atrophy: a nationwide observational cohort study in Austria Open
This study was financially supported by F. Hoffmann-La Roche Ltd.
View article: Expertenkonsensus: Meningokokkenprophylaxe in der Therapie neurologischer Erkrankungen mit Komplementinhibitoren
Expertenkonsensus: Meningokokkenprophylaxe in der Therapie neurologischer Erkrankungen mit Komplementinhibitoren Open
Zusammenfassung Die Hemmung des terminalen Komplementsystems ist ein Therapieprinzip, das bei der Acetylcholinrezeptor-Antikörper-positiven generalisierten Myasthenia gravis (AChR-Ak+ gMG) und der Aquaporin-4-Antikörper-positiven Neuromyel…
View article: Motor phenotypes of amyotrophic lateral sclerosis – a three-determinant anatomical classification based on the region of onset, propagation of motor symptoms, and the degree of upper and lower motor neuron dysfunction
Motor phenotypes of amyotrophic lateral sclerosis – a three-determinant anatomical classification based on the region of onset, propagation of motor symptoms, and the degree of upper and lower motor neuron dysfunction Open
View article: A Prospective Comparison of Subjective Symptoms and Neurophysiological Findings in the Assessment of Neuropathy in Cancer Patients
A Prospective Comparison of Subjective Symptoms and Neurophysiological Findings in the Assessment of Neuropathy in Cancer Patients Open
Objectives: Neurotoxic effects causing peripheral nerve damage have been reported for several chemotherapy agents. There is no established and standardized method to assess the presence of chemotherapy-induced peripheral neuropathy (CIPN).…
View article: Skeletal Muscle Involvement in Friedreich Ataxia
Skeletal Muscle Involvement in Friedreich Ataxia Open
Friedreich Ataxia (FRDA) is an inherited neuromuscular disorder triggered by a deficit of the mitochondrial protein frataxin. At a cellular level, frataxin deficiency results in insufficient iron–sulfur cluster biosynthesis and impaired mi…
View article: Lumbar disc herniation
Lumbar disc herniation Open
Longer symptom duration and lower motor scores are associated with worse outcome and a lower chance of neurologic recovery. The recovery rate for motor deficits ranges from 33% to 75%, depending on the timing and modality of treatment as w…
View article: Serum neurofilament light chain in distinct phenotypes of amyotrophic lateral sclerosis: A longitudinal, multicenter study
Serum neurofilament light chain in distinct phenotypes of amyotrophic lateral sclerosis: A longitudinal, multicenter study Open
Objective To assess the performance of serum neurofilament light chain (sNfL) in clinical phenotypes of amyotrophic lateral sclerosis (ALS). Method s In 2949 ALS patients at 16 ALS centers in Germany and Austria, clinical characteristics a…
View article: Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy Open
In digenic inheritance, pathogenic variants in two genes must be inherited together to cause disease. Only very few examples of digenic inheritance have been described in the neuromuscular disease field. Here we show that predicted deleter…
View article: 104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07)
104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07) Open
The phase III double-blind PROPEL study compared the novel two-component therapy cipaglucosidase alfa + miglustat (cipa + mig) with alglucosidase alfa + placebo (alg + pbo) in adults with late-onset Pompe disease (LOPD). This ongoing open-…
View article: Multifocal motor neuropathy as a mimic of amyotrophic lateral sclerosis: Serum neurofilament light chain as a reliable diagnostic biomarker
Multifocal motor neuropathy as a mimic of amyotrophic lateral sclerosis: Serum neurofilament light chain as a reliable diagnostic biomarker Open
Introduction/Aims The clinical presentation of multifocal motor neuropathy (MMN) may mimic early amyotrophic lateral sclerosis (ALS) with predominant lower motor neuron (LMN) involvement, posing a diagnostic challenge. Both diseases have s…
View article: Long-term efficacy and safety of nusinersen in adults with 5q spinal muscular atrophy: a prospective European multinational observational study
Long-term efficacy and safety of nusinersen in adults with 5q spinal muscular atrophy: a prospective European multinational observational study Open
View article: Guideline “Motor neuron diseases” of the German Society of Neurology (Deutsche Gesellschaft für Neurologie)
Guideline “Motor neuron diseases” of the German Society of Neurology (Deutsche Gesellschaft für Neurologie) Open
Introduction In 2021, the Deutsche Gesellschaft für Neurology published a new guideline on diagnosis and therapy of motor neuron disorders. Motor neuron disorders affect upper motor neurons in the primary motor cortex and/or lower motor ne…
View article: A prospective case-control study of excessive fragmentary myoclonus in the upper and lower extremities: Clinical characteristics and electrophysiological correlates
A prospective case-control study of excessive fragmentary myoclonus in the upper and lower extremities: Clinical characteristics and electrophysiological correlates Open
In this large cohort we systematically investigated upper and lower extremities with surface electromyography during sleep and show that EFM is much more frequent in the lower extremities than in the upper extremities and corroborate the a…
View article: Transcranial Magnetic Stimulation in the Differential Diagnosis of Unilateral Peripheral Facial Nerve Palsy
Transcranial Magnetic Stimulation in the Differential Diagnosis of Unilateral Peripheral Facial Nerve Palsy Open
(1) Background: This study aims to assess the diagnostic accuracy of parameters based on a combination of transcranial magnetic stimulation (TMS) and electrical stimulation (ES) in the differentiation between idiopathic and secondary facia…
View article: The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study
The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study Open
Background Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders caused by genetic defects resulting in impaired neuromuscular transmission. Although effective treatments are available, CMS is probably underdiagnosed…
View article: Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy
Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy Open
5q-associated spinal muscular atrophy is a rare neuromuscular disorder with the leading symptom of a proximal muscle weakness. Three different drugs have been approved by the European Medicines Agency and Food and Drug Administration for t…
View article: Does preoperative opioid therapy in patients with a single lumbar disc herniation positively influence the postoperative outcome detected by quantitative sensory testing?
Does preoperative opioid therapy in patients with a single lumbar disc herniation positively influence the postoperative outcome detected by quantitative sensory testing? Open
View article: Small fiber involvement is independent from clinical pain in late-onset Pompe disease
Small fiber involvement is independent from clinical pain in late-onset Pompe disease Open
Background Pain occurs in the majority of patients with late onset Pompe disease (LOPD) and is associated with a reduced quality of life. The aim of this study was to analyse the pain characteristics and its relation to a small nerve fiber…
View article: Recovery of Chronic Inflammatory Demyelinating Polyneuropathy on Treatment With Ocrelizumab in a Patient With Co-Existing Multiple Sclerosis
Recovery of Chronic Inflammatory Demyelinating Polyneuropathy on Treatment With Ocrelizumab in a Patient With Co-Existing Multiple Sclerosis Open
The chimeric anti-CD20 antibody rituximab has demonstrated good efficacy as an off-label treatment in chronic inflammatory demyelinating polyneuropathy (CIDP), while the humanized anti-CD20 antibody ocrelizumab has been approved for treatm…
View article: A polymorphic AT-repeat causes frequent allele dropout for an <i>MME</i> mutational hotspot exon
A polymorphic AT-repeat causes frequent allele dropout for an <i>MME</i> mutational hotspot exon Open
Results of NGS, FLA and SS using different primers with and without the AT-repeat.Contradicting results are highlighted in bold.Patient ID are listed according to the numbers on the pedigrees (figure 1A).*Due to lack of DNA, complete testi…
View article: Clinico‐genetic spectrum of limb‐girdle muscular weakness in Austria: A multicentre cohort study
Clinico‐genetic spectrum of limb‐girdle muscular weakness in Austria: A multicentre cohort study Open
Background and purpose Hereditary myopathies with limb‐girdle muscular weakness (LGW) are a genetically heterogeneous group of disorders, in which molecular diagnosis remains challenging. Our aim was to present a detailed clinical and gene…
View article: Neurological outcomes 1 year after COVID‐19 diagnosis: A prospective longitudinal cohort study
Neurological outcomes 1 year after COVID‐19 diagnosis: A prospective longitudinal cohort study Open
Background and purpose Neurological sequelae from coronavirus disease 2019 (COVID‐19) may persist after recovery from acute infection. Here, the aim was to describe the natural history of neurological manifestations over 1 year after COVID…
View article: Safety and Effectiveness of Long-term Intravenous Administration of Edaravone for Treatment of Patients With Amyotrophic Lateral Sclerosis
Safety and Effectiveness of Long-term Intravenous Administration of Edaravone for Treatment of Patients With Amyotrophic Lateral Sclerosis Open
IMPORTANCE: Intravenous edaravone is approved as a disease-modifying drug for patients with amyotrophic lateral sclerosis (ALS), but evidence for efficacy is limited to short-term beneficial effects shown in the MCI186-ALS19 study in a sub…
View article: 100 years of inherited metabolic disorders in Austria—A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021
100 years of inherited metabolic disorders in Austria—A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021 Open
Inherited metabolic disorders (IMDs) are a heterogeneous group of rare disorders characterized by disruption of metabolic pathways. To date, data on incidence and prevalence of IMDs are limited. Taking advantage of a functioning network wi…
View article: Signs of sympathetic and endothelial cell activation in the skin of patients with restless legs syndrome
Signs of sympathetic and endothelial cell activation in the skin of patients with restless legs syndrome Open
SFN, as a potential contributing factor for RLS, should be considered in patients with predisposing comorbidities presenting with burning or shooting pain, dysesthesias and impaired sensory and temperature perception. Evidence of an increa…
View article: Ultrasound-Guided Minimal Invasive Carpal Tunnel Release: An Optimized Algorithm
Ultrasound-Guided Minimal Invasive Carpal Tunnel Release: An Optimized Algorithm Open
View article: Case Report: Myopathy in Critically Ill COVID-19 Patients: A Consequence of Hyperinflammation?
Case Report: Myopathy in Critically Ill COVID-19 Patients: A Consequence of Hyperinflammation? Open
Introduction: COVID-19-associated muscular complications may comprise myalgia, weakness, wasting, and rhabdomyolysis. Skeletal muscle damage in COVID-19 may be due to direct infection by the virus SARS-CoV-2 through interaction with the AC…
View article: Antibodies to the Caspr1/contactin-1 complex in chronic inflammatory demyelinating polyradiculoneuropathy
Antibodies to the Caspr1/contactin-1 complex in chronic inflammatory demyelinating polyradiculoneuropathy Open
Previous studies have described the clinical, serological and pathological features of patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and antibodies directed against the paranodal proteins neurofascin-155, c…
View article: Myasthenic crisis following SARS-CoV-2 infection and delayed virus clearance in a patient treated with rituximab: clinical course and 6-month follow-up
Myasthenic crisis following SARS-CoV-2 infection and delayed virus clearance in a patient treated with rituximab: clinical course and 6-month follow-up Open