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JOURNAL ARTICLE
Julian Theuriet, Marion Masingue, Anthony Behin, Ana Ferreiro, Guillaume Bassez, Pauline Jaubert, Oriana Tarabay, Frédéric Fer, Antoine Pegat, Françoise Bouhour, Juliette Svahn, Philippe Petiot, Laurentiu Jomir, Guy Chauplannaz, Catherine Cornut-Chauvinc, Véronique Manel, Emmanuelle Salort-Campana, Shahram Attarian, Etienne Fortanier, Annie Verschueren, Ludivine Kouton, Jean-Philippe Camdessanché, Céline Tard, Armelle Magot, Yann Péréon, Jean-Baptiste Noury, Marie-Christine Minot-Myhie, Maud Perie, Frederic Taithe, Yacine Farhat, Anne-Laure Millet, Pascal Cintas, Guilhem Solé, Marco Spinazzi, Florence Esselin, Dimitri Renard, Sabrina Sacconi, Andra Ezaru, Edoardo Malfatti, Martial Mallaret, Laurent Magy, Eva Diab, Philippe Merle, Maud Michaud, Maxime Fournier, Aleksandra Nadaj Pakleza, Jean-Baptiste Chanson, Claire Lefeuvre, Pascal Laforet, Pascale Richard, Damien Sternberg, Rocio-Nur Villar-Quiles, Tanya Stojkovic, Bruno Eymard
Congenital myasthenic syndromes (CMS) are clinically and genetically heterogeneous diseases caused by mutations affecting neuromuscular transmission. Even if the first symptoms mainly occur during childhood, adult neurologists must confront this challenging diagnosis and manage these patients throughout their adulthood. However, long-term follow-up data from large cohorts of CMS patients are lacking and the long-term prognosis of these patients is largely unknown. We report the clinical features, diagnostic difficulties, and long-term prognosis of a French nationwide cohort of 235 adult patients with genetically confirmed CMS followed in 23 specialized neuromuscular centres...
May 2, 2024: Brain
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JOURNAL ARTICLE
Walter Krause Neto, Wellington Silva, Tony Oliveira, Alan Vilas Boas, Adriano Ciena, Érico Chagas Caperuto, Eliane Florencio Gama
Scientific evidence regarding the effect of different ladder-based resistance training (LRT) protocols on the morphology of the neuromuscular system is scarce. Therefore, the present study aimed to compare the morphological response induced by different LRT protocols in the ultrastructure of the tibial nerve and morphology of the motor endplate and muscle fibers of the soleus and plantaris muscles of young adult Wistar rats. Rats were divided into groups: sedentary control (control, n = 9), a predetermined number of climbs and progressive submaximal intensity (fixed, n = 9), high-intensity and high-volume pyramidal system with a predetermined number of climbs (Pyramid, n = 9) and lrt with a high-intensity pyramidal system to exhaustion (failure, n = 9)...
2024: Frontiers in Physiology
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Djurdja Djordjevic, Issa Alawneh, Kimberly Amburgey, Kyoko E Yuki, Lianna G Kyriakopoulou, Vilma Navickiene, Jim Stavropoulos, Grace Yoon, James J Dowling, Hernan Gonorazky
LAMA2-related muscular dystrophy is caused by pathogenic variants of the alpha2 subunit of Laminin. This common form of muscular dystrophy is characterized by elevated CK >1000IU/L, dystrophic changes on muscle biopsy, complete or partial absence of merosin staining, and both central and peripheral nervous system involvement. Advancements in genomic testing using NGS and wider application of RNA sequencing has expanded our knowledge of novel non-coding pathogenic variants in LAMA2. RNA sequencing is an increasingly utilized technique to directly analyze the transcriptome, through creation of a complementary DNA (cDNA) from the transcript within a tissue sample...
April 5, 2024: Neuromuscular Disorders: NMD
#4
JOURNAL ARTICLE
Tingting Wang, C Andrew Frank
Synaptic transmission plays a critical role in information processing and storage within the nervous system. The triggering of action potentials activates voltage-gated calcium channels at presynaptic active zones, facilitating the calcium-dependent release of synaptic vesicles. Homeostatic mechanisms are crucial in stabilizing synaptic function. At the Drosophila neuromuscular junction, a compensatory increase in presynaptic neurotransmitter release occurs when postsynaptic glutamate receptor function is pharmacologically or genetically impaired, thereby stabilizing synaptic output...
April 30, 2024: Cold Spring Harbor Protocols
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JOURNAL ARTICLE
Tingting Wang, C Andrew Frank
The Drosophila melanogaster neuromuscular junction (NMJ) is an easily accessible synapse and an excellent model for understanding synapse development, function, and plasticity. A form of plasticity called presynaptic homeostatic potentiation (PHP) operates at the NMJ and keeps synapse excitation levels stable. PHP can be induced rapidly in 10 min by application of a pharmacological antagonist of glutamate receptors (philanthotoxin-433) or chronically by deletion of the gene encoding the postsynaptic glutamate receptor subunit GluRIIA...
April 30, 2024: Cold Spring Harbor Protocols
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JOURNAL ARTICLE
Tingting Wang, C Andrew Frank
Presynaptic homeostatic potentiation (PHP) is a type of homeostatic regulation that stabilizes synaptic output under conditions where postsynaptic receptor function is impaired. PHP manifests as a significant increase in presynaptic neurotransmitter release, compensating for decreased postsynaptic receptor activity and thus maintaining stable excitation levels in postsynaptic cells. Presynaptic neurotransmitter release is calcium-dependent, initiated by calcium influx through voltage-gated calcium channels localized at the presynaptic active zones...
April 30, 2024: Cold Spring Harbor Protocols
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JOURNAL ARTICLE
Tingting Wang, C Andrew Frank
The Drosophila melanogaster neuromuscular junction (NMJ) is a superb system for studying synapse function. Beyond that, the NMJ is also great for studying forms of synaptic plasticity. Over the last 25 years, Drosophila NMJ neuroscientists have pioneered understanding of a form of plasticity called homeostatic synaptic plasticity, which imparts functional stability on synaptic connections. The reason is straightforward: The NMJ has a robust capacity for stability. Moreover, many strategies that the NMJ uses to maintain appropriate levels of function are mirrored at other metazoan synapses...
April 30, 2024: Cold Spring Harbor Protocols
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JOURNAL ARTICLE
Kaitlin M Hoyt, John R Barr, André O Hopkins, Janet K Dykes, Carolina Lúquez, Suzanne R Kalb
Botulism is a paralytic disease due to the inhibition of acetylcholine exocytosis at the neuromuscular junction, which can be lethal if left untreated. Botulinum neurotoxins (BoNTs) are produced by some spore-forming Clostridium bacteria. The current confirmatory assay to test for BoNTs in clinical specimens is the gold-standard mouse bioassay. However, an Endopep-MS assay method has been developed to detect BoNTs in clinical samples using benchtop mass spectrometric detection. This work demonstrates the validation of the Endopep-MS method for clinical specimens with the intent of method distribution in public health laboratories...
April 30, 2024: Journal of Clinical Microbiology
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JOURNAL ARTICLE
Suwen Huang, Yanchu Wang, Jinrong Zhu, Shengqi Li, Shenyi Lin, Wei Xie, Siyao Chen, Yukai Wang, Lingsheng Wang, Qiaoqiao Jin, Yiyun Weng, Dehao Yang
PURPOSE: Myasthenia gravis (MG) is a chronic autoimmune disease caused by neuromuscular junction (NMJ) dysfunction. Our current understanding of MG's inflammatory component remains poor. The systemic inflammatory response index (SIRI) presents a promising yet unexplored biomarker for assessing MG severity. This study aimed to investigate the potential relationship between SIRI and MG disease severity. PATIENTS AND METHODS: We conducted a retrospective analysis of clinical data from 171 MG patients admitted between January 2016 and June 2021...
2024: Journal of Inflammation Research
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JOURNAL ARTICLE
Kai-Yu Huang, Gaurav Upadhyay, Yujin Ahn, Masayoshoi Sakakura, Gelson J Pagan-Diaz, Younghak Cho, Amanda C Weiss, Chen Huang, Jennifer W Mitchell, Jiahui Li, Yanqi Tan, Yu-Heng Deng, Austin Ellis-Mohr, Zhi Dou, Xiaotain Zhang, Sehong Kang, Qian Chen, Jonathan V Sweedler, Sung Gap Im, Rashid Bashir, Hee Jung Chung, Gabriel Popescu, Martha U Gillette, Mattia Gazzola, Hyunjoon Kong
Myokines and exosomes, originating from skeletal muscle, are shown to play a significant role in maintaining brain homeostasis. While exercise has been reported to promote muscle secretion, little is known about the effects of neuronal innervation and activity on the yield and molecular composition of biologically active molecules from muscle. As neuromuscular diseases and disabilities associated with denervation impact muscle metabolism, we hypothesize that neuronal innervation and firing may play a pivotal role in regulating secretion activities of skeletal muscles...
May 7, 2024: Proceedings of the National Academy of Sciences of the United States of America
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JOURNAL ARTICLE
Christopher D Seaver, Sara J Morgan, Candice S Legister, Casey L Palmer, Eduardo C Beauchamp, Tenner J Guillaume, Walter H Truong, Steven E Koop, Joseph H Perra, John E Lonstein, Daniel J Miller
PURPOSE: To describe the incidence of reoperation and factors contributing to surgical revision within a minimum of 10 years after spinal fusion for scoliosis in patients with nonambulatory cerebral palsy (CP). METHODS: We conducted a retrospective review of consecutive nonambulatory patients with CP who underwent primary spinal fusion at a single specialty care center with a minimum of 10 years from their index surgery (surgery dates 2001-2011). Causes of reoperation were classified as implant failure/pseudoarthrosis, surgical site infection (SSI), proximal junctional kyphosis, prominent/symptomatic implants, and implant removal...
April 29, 2024: Spine Deformity
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Farah Slaczka, Roshan Uruthirakumar, Mateusz Slaczka, Andrew Bozeman
Internal anal sphincter achalasia (IASA) is a rare anorectal disorder that presents as chronic refractory constipation in pediatrics. With a poor response to conventional constipation-based therapy, it is often misdiagnosed as other conditions, such as ultra-short-segment Hirschsprung disease. This case report describes a rare case of IASA in an adolescent female, emphasizing the importance of ruling out other differentials, including Hirschsprung disease, via rectal biopsy and thus allowing for earlier targeted therapy to improve lifestyle conditions...
March 2024: Curēus
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REVIEW
Zambon Alberto Andrea, Falzone Yuri Matteo, Bolino Alessandra, Previtali Stefano Carlo
Neuromuscular diseases encompass a heterogeneous array of disorders characterized by varying onset ages, clinical presentations, severity, and progression. While these conditions can stem from acquired or inherited causes, this review specifically focuses on disorders arising from genetic abnormalities, excluding metabolic conditions. The pathogenic defect may primarily affect the anterior horn cells, the axonal or myelin component of peripheral nerves, the neuromuscular junction, or skeletal and/or cardiac muscles...
April 28, 2024: Cellular and Molecular Life Sciences: CMLS
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JOURNAL ARTICLE
hkb is required for DIP-α expression and target recognition in the Drosophila neuromuscular circuit.
Yupu Wang, Rio J Salazar, Luciano T Simonetta, Violet Sorrentino, Terrence J Gatton, Bill Wu, Christopher G Vecsey, Robert A Carrillo
Our nervous system contains billions of neurons that form precise connections with each other through interactions between cell surface proteins. In Drosophila, the Dpr and DIP immunoglobulin protein subfamilies form homophilic or heterophilic interactions to instruct synaptic connectivity, synaptic growth, and cell survival. However, the upstream regulatory mechanisms of Dprs and DIPs are not clear. On the other hand, while transcription factors have been implicated in target recognition, their downstream cell surface proteins remain mostly unknown...
April 27, 2024: Communications Biology
#15
REVIEW
Gokhan Burcin Kubat, Pasquale Picone
Amyotrophic lateral sclerosis (ALS) is a progressive and fatal neuromuscular disease that results in the loss of motor neurons and severe skeletal muscle atrophy. The etiology of ALS is linked to skeletal muscle, which can activate a retrograde signaling cascade that destroys motor neurons. This is why satellite cells and mitochondria play a crucial role in the health and performance of skeletal muscles. This review presents current knowledge on the involvement of mitochondrial dysfunction, skeletal muscle atrophy, muscle satellite cells, and neuromuscular junction (NMJ) in ALS...
April 27, 2024: Neurological Sciences
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JOURNAL ARTICLE
Kiran Polavarapu, Daniel O'Neil, Rachel Thompson, Sally Spendiff, Bevinahalli Nandeesh, Seena Vengalil, Akshata Huddar, Dipti Baskar, Gautham Arunachal, Ananthapadmanabha Kotambail, Saloni Bhatia, Seetam Kumar Tumulu, Leslie Matalonga, Ana Töpf, Steven Laurie, Joshua Zeldin, Saraswati Nashi, Gopikrishnan Unnikrishnan, Atchayaram Nalini, Hanns Lochmüller
Recessive desminopathies are rare and often present as severe early-onset myopathy. Here we report a milder phenotype in three unrelated patients from southern India (2 M, 1F) aged 16, 21, and 22 years, who presented with childhood-onset, gradually progressive, fatigable limb-girdle weakness, ptosis, speech and swallowing difficulties, without cardiac involvement. Serum creatine kinase was elevated, and repetitive nerve stimulation showed decrement in all. Clinical improvement was noted with pyridostigmine and salbutamol in two patients...
March 22, 2024: Neuromuscular Disorders: NMD
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JOURNAL ARTICLE
Ang Li, Jianxun Yi, Xuejun Li, Li Dong, Lyle W Ostrow, Jianjie Ma, Jingsong Zhou
Amyotrophic lateral sclerosis (ALS) is a fatal neuromuscular disorder characterized by progressive weakness of almost all skeletal muscles, whereas extraocular muscles (EOMs) are comparatively spared. While hindlimb and diaphragm muscles of end-stage SOD1G93A (G93A) mice (a familial ALS mouse model) exhibit severe denervation and depletion of Pax7+ satellite cells (SCs), we found that the pool of SCs and the integrity of neuromuscular junctions (NMJs) are maintained in EOMs. In cell sorting profiles, SCs derived from hindlimb and diaphragm muscles of G93A mice exhibit denervation-related activation, whereas SCs from EOMs of G93A mice display spontaneous (non-denervation-related) activation, similar to SCs from wild-type mice...
April 25, 2024: ELife
#18
JOURNAL ARTICLE
Mendelian randomization and colocalization analysis reveal novel drug targets for myasthenia gravis.
Yuzhen Ouyang, Yu Chen, Kangzhi Chen, Zhenwei Tang, Guanzhong Shi, Chunrun Qu, Kaiyue Zhang, Huan Yang
OBJECTIVE: Myasthenia gravis (MG) is a complex autoimmune disease affecting the neuromuscular junction with limited drug options, but the field of MG treatment recently benefits from novel biological agents. We performed a drug-targeted Mendelian randomization (MR) study to identify novel therapeutic targets of MG. METHODS: Cis-expression quantitative loci (cis-eQTL), which proxy expression levels for 2176 druggable genes, were used for MR analysis. Causal relationships between genes and disease, identified by eQTL MR analysis, were verified by comprehensive sensitivity, colocalization, and protein quantitative loci (pQTL) MR analyses...
April 24, 2024: Human Genomics
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JOURNAL ARTICLE
Olena Butenko, Stine Marie Jensen, Yvonne E Fillié-Grijpma, Robyn Verpalen, Jan J Verschuuren, Silvère M van der Maarel, Maartje G Huijbers, Jaap J Plomp
Muscle-specific kinase myasthenia gravis (MuSK MG) is caused by autoantibodies against MuSK in the neuromuscular junction (NMJ). MuSK MG patients have fluctuating, fatigable skeletal muscle weakness, in particular of bulbar muscles. Severity differs greatly between patients, in spite of comparable autoantibody levels. One explanation for inter-patient and inter-muscle variability in sensitivity might be variations in compensatory muscle responses. Previously, we developed a passive transfer mouse model for MuSK MG...
April 22, 2024: European Journal of Neuroscience
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JOURNAL ARTICLE
Thomas J Waller, Laura J Smithson, Catherine A Collins
The long length of axons makes them vulnerable to damage; hence, it is logical that nervous systems have evolved adaptive mechanisms for responding to axon damage. Studies in Drosophila melanogaster have identified evolutionarily conserved molecular pathways that enable axonal degeneration and regeneration of damaged axons and/or dendrites. This protocol describes a simple method for inducing nerve crush injury to motoneuron and sensory neuron axons in the peripheral (segmental) nerves in second- or early third-instar larvae...
April 22, 2024: Cold Spring Harbor Protocols
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