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State-of-Art in Neuromuscular Diseases
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State-of-Art in Neuromuscular Diseases

A special issue of Cells (ISSN 2073-4409). This special issue belongs to the section "Cells of the Nervous System".

Deadline for manuscript submissions: closed (15 April 2023) | Viewed by 19688

Special Issue Editor

Dr. Mehdi Ghasemi

E-Mail Website
Guest Editor
Department of Neurology, University of Massachusetts School of Medicine, Worcester, MA 01655, USA
Interests: neurology; epilepsy; neuromuscular disorders; neurovascular system; neurodegenerative diseases; neurotransmitters; amyotrophic lateral sclerosis

Special Issue Information

Dear Colleagues,

This special issue of “Neuromuscular Disorders” is aimed at a wide range of clinicians, pathologists, geneticists, and clinical and basic scientists with an interest in the study of neuromuscular disorders. The editorial team welcome high-quality original research articles, review articles, and communications (including opinion and hypothesis papers) covering all aspects of neuromuscular disorders in childhood and adult life, with a focus on advances in the fields of molecular biology and genetics, translational research, drug development, clinical trials, and improvement of clinical trial outcome measures and biomarkers in a wide variety of neuromuscular disorders, which include, without being limited to:

  • Motor neuron diseases
  • Amyotrophic lateral sclerosis – frontotemporal dementia spectrum
  • Spinal muscular atrophies
  • Hereditary or acquired neuropathies
  • Muscular dystrophies
  • Congenital myopathies
  • Myotonic syndromes
  • Metabolic myopathies
  • Inflammatory myopathies
  • Myasthenia gravis and other neuromuscular junction disorders

Dr. Mehdi Ghasemi
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Cells is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2700 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • neuromuscular diseases
  • motor neuron diseases
  • spinal muscular atrophies
  • muscular dystrophies
  • congenital myopathies
  • hereditary or acquired neuropathies
  • metabolic myopathies
  • inflammatory myopathies

Published Papers (4 papers)

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Research

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8 pages, 1753 KiB  
Article
The Strategy of the Brain to Maintain the Force Production in Painful Contractions—A Motor Units Pool Reorganization
by Klaus Becker, Márcio Goethel, Pedro Fonseca, João Paulo Vilas-Boas and Ulysses Ervilha
Cells 2022, 11(20), 3299; https://doi.org/10.3390/cells11203299 - 20 Oct 2022
Cited by 2 | Viewed by 1642
Abstract
A common symptom in neuromuscular diseases is pain, which changes human movement in many ways. Using the decomposed electromyographic signal, we investigate the strategy of the brain in recruiting different pools of motor units (MUs) to produce torque during induced muscle pain in [...] Read more.
A common symptom in neuromuscular diseases is pain, which changes human movement in many ways. Using the decomposed electromyographic signal, we investigate the strategy of the brain in recruiting different pools of motor units (MUs) to produce torque during induced muscle pain in terms of firing rate (FR), recruitment threshold (RT) and action potential amplitude (MUAPAMP). These properties were used to define two groups (G1/G2) based on a K-means clusterization method. A 2.0 mL intramuscular hypertonic (6%) or isotonic (0.9%) saline solution was injected to induce pain or act as a placebo during isometric and isokinetic knee extension contractions. While isometric torque decreases after pain induction with hypertonic solution, this does not occur in isokinetic torque. This occurs because the MUs re-organized after the injection of both solutions. This is supported by an increase in RT, in both G1 and G2 MUs. However, when inducing pain with the hypertonic solution, RT increase is exacerbated. In this condition, FR also decreases, while MUAPAMP increases only for G1 MUs. Therefore, this study proposes that the strategy for maintaining force production during pain is to recruit MUs with higher RT and MUAPAMP. Full article
(This article belongs to the Special Issue State-of-Art in Neuromuscular Diseases)
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14 pages, 817 KiB  
Article
Phenotypic and Genetic Heterogeneity of Adult Patients with Hereditary Spastic Paraplegia from Serbia
by Stojan Perić, Vladana Marković, Ayşe Candayan, Els De Vriendt, Nikola Momčilović, Andrija Savić, Nataša Dragašević-Mišković, Marina Svetel, Zorica Stević, Ivo Božović, Šarlota Mesaroš, Jelena Drulović, Ivana Basta, Igor Petrović, Olivera Tamaš, Milija Mijajlović, Ivana Novaković, Dragoslav Sokić and Albena Jordanova
Cells 2022, 11(18), 2804; https://doi.org/10.3390/cells11182804 - 8 Sep 2022
Cited by 2 | Viewed by 1727
Abstract
Hereditary spastic paraplegia (HSP) is among the most genetically diverse of all monogenic diseases. The aim was to analyze the genetic causes of HSP among adult Serbian patients. The study comprised 74 patients from 65 families clinically diagnosed with HSP during a nine-year [...] Read more.
Hereditary spastic paraplegia (HSP) is among the most genetically diverse of all monogenic diseases. The aim was to analyze the genetic causes of HSP among adult Serbian patients. The study comprised 74 patients from 65 families clinically diagnosed with HSP during a nine-year prospective period. A panel of thirteen genes was analyzed: L1CAM (SPG1), PLP1 (SPG2), ATL1 (SPG3A), SPAST (SPG4), CYP7B1 (SPG5A), SPG7 (SPG7), KIF5A (SPG10), SPG11 (SPG11), ZYFVE26 (SPG15), REEP1 (SPG31), ATP13A2 (SPG78), DYNC1H1, and BICD2 using a next generation sequencing-based technique. A copy number variation (CNV) test for SPAST, SPG7, and SPG11 was also performed. Twenty-three patients from 19 families (29.2%) had conclusive genetic findings, including 75.0% of families with autosomal dominant and 25.0% with autosomal recessive inheritance, and 15.7% of sporadic cases. Twelve families had mutations in the SPAST gene, usually with a pure HSP phenotype. Three sporadic patients had conclusive findings in the SPG11 gene. Two unrelated patients carried a homozygous pathogenic mutation c.233T>A (p.L78*) in SPG7 that is a founder Roma mutation. One patient had a heterozygous de novo variant in the KIF5A gene, and one had a compound heterozygous mutation in the ZYFVE26 gene. The combined genetic yield of our gene panel and CNV analysis for HSP was around 30%. Our findings broaden the knowledge on the genetic epidemiology of HSP, with implications for molecular diagnostics in this region. Full article
(This article belongs to the Special Issue State-of-Art in Neuromuscular Diseases)
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Review

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21 pages, 805 KiB  
Review
Gene Therapy in Amyotrophic Lateral Sclerosis
by Ton Fang, Goun Je, Peter Pacut, Kiandokht Keyhanian, Jeff Gao and Mehdi Ghasemi
Cells 2022, 11(13), 2066; https://doi.org/10.3390/cells11132066 - 29 Jun 2022
Cited by 22 | Viewed by 7506
Abstract
Since the discovery of Cu/Zn superoxide dismutase (SOD1) gene mutation, in 1993, as the first genetic abnormality in amyotrophic lateral sclerosis (ALS), over 50 genes have been identified as either cause or modifier in ALS and ALS/frontotemporal dementia (FTD) spectrum disease. [...] Read more.
Since the discovery of Cu/Zn superoxide dismutase (SOD1) gene mutation, in 1993, as the first genetic abnormality in amyotrophic lateral sclerosis (ALS), over 50 genes have been identified as either cause or modifier in ALS and ALS/frontotemporal dementia (FTD) spectrum disease. Mutations in C9orf72, SOD1, TAR DNA binding protein 43 (TARDBP), and fused in sarcoma (FUS) genes are the four most common ones. During the last three decades, tremendous effort has been made worldwide to reveal biological pathways underlying the pathogenesis of these gene mutations in ALS/FTD. Accordingly, targeting etiologic genes (i.e., gene therapies) to suppress their toxic effects have been investigated widely. It includes four major strategies: (i) removal or inhibition of abnormal transcribed RNA using microRNA or antisense oligonucleotides (ASOs), (ii) degradation of abnormal mRNA using RNA interference (RNAi), (iii) decrease or inhibition of mutant proteins (e.g., using antibodies against misfolded proteins), and (iv) DNA genome editing with methods such as clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein (CRISPR/Cas). The promising results of these studies have led to the application of some of these strategies into ALS clinical trials, especially for C9orf72 and SOD1. In this paper, we will overview advances in gene therapy in ALS/FTD, focusing on C9orf72, SOD1, TARDBP, and FUS genes. Full article
(This article belongs to the Special Issue State-of-Art in Neuromuscular Diseases)
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24 pages, 1177 KiB  
Review
Outcome Measures in Facioscapulohumeral Muscular Dystrophy Clinical Trials
by Mehdi Ghasemi, Charles P. Emerson, Jr. and Lawrence J. Hayward
Cells 2022, 11(4), 687; https://doi.org/10.3390/cells11040687 - 16 Feb 2022
Cited by 10 | Viewed by 7816
Abstract
Facioscapulohumeral muscular dystrophy (FSHD) is a debilitating muscular dystrophy with a variable age of onset, severity, and progression. While there is still no cure for this disease, progress towards FSHD therapies has accelerated since the underlying mechanism of epigenetic derepression of the double [...] Read more.
Facioscapulohumeral muscular dystrophy (FSHD) is a debilitating muscular dystrophy with a variable age of onset, severity, and progression. While there is still no cure for this disease, progress towards FSHD therapies has accelerated since the underlying mechanism of epigenetic derepression of the double homeobox 4 (DUX4) gene leading to skeletal muscle toxicity was identified. This has facilitated the rapid development of novel therapies to target DUX4 expression and downstream dysregulation that cause muscle degeneration. These discoveries and pre-clinical translational studies have opened new avenues for therapies that await evaluation in clinical trials. As the field anticipates more FSHD trials, the need has grown for more reliable and quantifiable outcome measures of muscle function, both for early phase and phase II and III trials. Advanced tools that facilitate longitudinal clinical assessment will greatly improve the potential of trials to identify therapeutics that successfully ameliorate disease progression or permit muscle functional recovery. Here, we discuss current and emerging FSHD outcome measures and the challenges that investigators may experience in applying such measures to FSHD clinical trial design and implementation. Full article
(This article belongs to the Special Issue State-of-Art in Neuromuscular Diseases)
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