Muscle & Nerve

INTRODUCTION/AIMS: In amyotrophic lateral sclerosis (ALS), the impact of motor neuron dysfunction on the motor unit (MU) firing pattern remains to be elucidated. The aim of this study was to clarify the characteristics of the MU firing rate and its association with clinical factors in ALS patients using high-density surface-electromyography (HDSEMG) and MU decomposition analysis. METHODS: Nineteen ALS patients and 20 controls prospectively underwent HDSEMG recording of the vastus lateralis muscle during ramp-up (30% of maximum voluntary contraction (MVC)) and sustained (10% of MVC for 60 s) contractions on performing isometric knee extension...

INTRODUCTION/AIMS: Descriptions of the clinical characteristics of anti-AChR-MuSK-LRP4 antibody-negative myasthenia gravis (triple-negative myasthenia gravis, TNMG) are lacking in the current literature. Therefore, we investigated the clinical characteristics of TNMG in Chinese patients. METHODS: We retrospectively analyzed 925 patients with MG registered in the Department of Neuroimmunology, Henan Institute of Medical and Pharmaceutical Sciences from January 2015 to March 2021...

INTRODUCTION/AIMS: Although muscle structure measures from magnetic resonance imaging (MRI) have been used to assess disease severity in muscular dystrophies, little is known about how these measures are affected in myotonic dystrophy type 2 (DM2). We aim to characterize lower extremity muscle fat fraction (MFF) as a potential biomarker of disease severity, and evaluate its relationship with motor performance in DM2. METHODS: 3-Tesla MRIs were obtained from nine patients with DM2 and six controls using a T1W-Dixon protocol...

INTRODUCTION/AIMS: Expanded access protocols (EAPs) are a Food and Drug Administration (FDA)-regulated pathway for granting access to investigational products (IPs) to individuals with serious diseases who are ineligible for clinical trials. There is limited information about the use of EAPs in ALS; the aim of this report is to share the design, operational features, and costs of an EAP program for ALS. METHODS: The program was launched in 2018 at a single center...

INTRODUCTION/AIMS: The outcome in chronic inflammatory demyelinating polyneuropathy (CIDP) has been reported in longitudinal and cross-sectional studies. A considerable variation of long-term disease outcome appears in the reports. To overcome this uncertainty, a systematic review and meta-analyses of CIDP outcome including the parameters case fatality rate, ambulation, physical ability and remission was conducted. METHODS: In accordance with the PRISMA guidelines, a systematic search in PubMed and EMBASE (OVID) for reports exceeding 2 years of follow-up on patients with active or previously active CIDP published until May 12th , 2022 was conducted...

INTRODUCTION/AIMS: In amyotrophic lateral sclerosis (ALS) caused by superoxide dismutase 1 (SOD1) gene mutations (SOD1-ALS), the antisense oligonucleotide tofersen had been investigated in a phase 3 study (VALOR) and subsequently introduced in an expanded access program. This study assesses neurofilament light chain (NfL) before and during tofersen treatment. METHODS: In six SOD1-ALS patients treated with tofersen at three specialized ALS centers in Germany, NfL in cerebrospinal fluid (CSF-NfL) and/or serum (sNfL), the ALS Functional Rating Scale-Revised (ALSFRS-R), and ALS progression rate (ALS-PR), defined by monthly decline of ALSFRS-R, were investigated...

INTRODUCTION/AIMS: Lower limb sensory nerve action potentials are an important component of nerve conduction studies. Most testing of the sural and superficial fibular nerves involves antidromic techniques above the ankle, which result in a falsely unobtainable response in 2-6% of healthy people. Cadaver, surgical and more recent ultrasound series suggest this may relate to the site of fascia penetration of the nerve, and it is hypothesised that a modified technique may be more likely to produce reliable responses and reduce false-negative errors...

INTRODUCTION/AIMS: Guillain-Barré syndrome (GBS) is a potentially life-threatening disorder, and some patients may develop subsequent depression related to traumatic stress or permanent loss of motor function. We determined the short-term (0-2 year) and long-term (> 2 year) risk of depression following GBS. METHODS: Individual-level data from nationwide registries were linked in this population-based cohort study of all first-time hospital-diagnosed GBS patients in Denmark between 2005 and 2016 and individuals from the general population...

INTRODUCTION/AIMS: Peripheral nerve injuries result in impaired neuromuscular interactions, leading to morphological and functional alterations. Adjuvant suture repair methods have been used to improve nerve regeneration and modulate the immune response. Heterologous fibrin biopolymer (HFB), a scaffold with adhesive properties, plays a critical role in tissue repair. The aim of this study is to evaluate neuroregeneration and immune response focusing on neuromuscular recovery, using suture-associated HFB for sciatic nerve repair...

INTRODUCTION/ AIMS: Non-systemic vasculitic neuropathy (NSVN) is characterized by a predominant lower-limb involvement in many patients. Motor unit changes in upper extremity muscles have not been investigated in this subgroup, but might be of interest to improve the understanding of the multifocal nature of the disease and counseling of patients on potential future symptoms. We aimed to investigate subclinical motor involvement in upper extremity muscles of patients with lower-limb predominant NSVN using the new motor unit number estimation (MUNE) method MScanFit...

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INTRODUCTION/AIMS: Vaccination against coronavirus disease (COVID-19) is relatively safe in patients with idiopathic inflammatory myopathies (IIM), however, myositis flares following vaccination have been poorly studied. We aimed to evaluate the frequency, features and outcomes of disease relapses in patients with IIM following COVID-19 vaccination. METHODS: A cohort of 176 IIM patients were interviewed after the 3rd wave of the COVID-19 pandemic and followed prospectively...

INTRODUCTION/AIMS: Oxaliplatin is a commonly used platinum chemotherapy drug while peripheral neurotoxicity is a widely observed adverse reaction lacking a satisfactory therapeutic strategy. Different adenosine receptors underlying the common neuropathic phenotype play different roles through varied pathophysiological mechanisms. In this study, we investigated the role of adenosine receptor A1 (A1R) in oxaliplatin-induced neuropathic pain and its potential use in an effective therapeutic strategy...

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INTRODUCTION/AIMS: Measures for assessing cranial nerve vulnerability in spinal muscular atrophy (SMA) have not yet been determined. Motor unit number index (MUNIX) studies have shown correlations with disease severity but have been used only in limb muscles. In the present study, we explore facial nerve response, MUNIX, and motor unit size index (MUSIX) of the orbicularis oculi muscle in a cohort of patients with SMA. METHODS: Facial nerve response (measured as compound muscle action potential, CMAP), MUNIX, and MUSIX of the orbicularis oculi muscle were cross-sectionally recorded in patients with SMA and compared to healthy control subjects (HCs)...

INTRODUCTION/AIMS: Higher urate levels are associated with improved ALS survival in retrospective studies, however whether raising urate levels confers a survival advantage is unknown. In the Safety of Urate Elevation in Amyotrophic Lateral Sclerosis (SURE-ALS) trial, inosine raised serum urate and was safe and well-tolerated. The SURE-ALS2 trial was designed to assess longer term safety. Functional outcomes and a smartphone application were also explored. METHODS: Participants were randomized 2:1 to inosine (n=14) or placebo (n=9) for 20 weeks, titrated to serum urate of 7-8 mg/dL...

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INTRODUCTION/AIMS: Risdiplam has been approved for the treatment of patients with 5q spinal muscular atrophy (SMA), but data in type 2 non-sitter patients are lacking. We aimed to describe our experience regarding the use of risdiplam in a series of type 2 non-sitter patients. METHODS: Type 2 SMA patients older than 16 years were offered risdiplam through the expanded access program (NCT04256265). Patients were followed up with a battery of scales and clinical measures...

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