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SNUPN variants cause spinocerebellar atrophy by disrupting global splicing in cerebellar Purkinje cells.

Mutations in the SNUPN gene, which encodes snurportin-1, a nuclear import adaptor for U1 small nuclear ribonucleoproteins (snRNP), have recently been implicated in limb-girdle muscular dystrophy, attributed to disrupted pre-messenger RNA splicing in skeletal muscle. U1 small nuclear ribonucleoproteins play a vital role in pre-messenger RNA splicing, a process essential for transcript fidelity and the regulation of gene expression across tissues. However, the impact of SNUPN mutations on the CNS remains unclear. We identified pathogenic variants in the SNUPN gene in two families with spinocereb

Ultrasound-guided hydrodissection of the subclavius muscle region in neurogenic thoracic outlet syndrome: a case report.

BACKGROUND: Thoracic outlet syndrome (TOS) is frequently underdiagnosed due to nonspecific symptoms and the absence of definitive radiographic findings. Neurogenic TOS (nTOS), the most common subtype, is typically caused by compression of the brachial plexus within anatomically constrained spaces. While muscular contributors such as the scalene and pectoralis minor muscles have been widely discussed, the role of the subclavius muscle remains underrecognized. CASE PRESENTATION: A 53-year-old male presented with an 18-month history of progressive right upper limb weakness and medial paresthesia

The Dual Role of Interleukin-6 in the Pathophysiology of Skeletal Muscle: Mechanisms, Challenges, and Therapeutic Prospects.

Interleukin-6 (IL-6) is a cytokine with multiple biological effects. It plays a complex and seemingly paradoxical central role in both the physiological homeostasis and pathological processes of skeletal muscle. Under physiological conditions, particularly during acute exercise, IL-6 produced and secreted by the contracting skeletal muscle itself acts as an important "myokine." It operates in an autocrine, paracrine, or endocrine manner to regulate systemic energy metabolism, insulin sensitivity, muscle regeneration, and adaptive hypertrophy. This function is crucial for the health benefits co

Orofacial dysfunction in persons with congenital or childhood-onset neuromuscular disorders.

BackgroundSome symptoms of orofacial dysfunction, such as dysphagia and dysarthria, are commonly encountered in congenital or childhood-onse … he groups, there were individuals without orofacial dysfunction, except for the subgroups of Spinal Muscular Atrophy type 1 and Duchenne Muscular Dystrophy with age range of 19-49 years in which all the participants (100%) demonstrated orofacial dysfunction according to NOT-S.ConclusionsThis study identifies a considerable proportion of individuals with congenital …

Неврология Андрогенса и Андродогенных добавок.

ЦЕЛЬ ОБЗОРА: В этой статье рассматривается сложная взаимосвязь между индрогенами, индрогенными рецепторами и центральной нервной системой. Мы изучаем роль физиологически производных ирогенов и андрогенных добавок в нейроразвитии и нейропластике и вникаем в участие индрогенных путей в патогенезе различных неврологических расстройств. ПОСЛЕДНИЕ ВЫВОДЫ: В настоящем обзоре обращается внимание на растущее признание тестостеронного и индрогенного сигналов в различных неврологических условиях, при этом имеются свидетельства как защитного, так и вредного воздействия в зависимости от дозы и контекста.

Совпадение в аннотации оригинала
PURPOSE OF REVIEW: This article explores the intricate relationship between androgens, androgen receptors, and the central nervous system. W … he other hand, androgen-blocking treatments may help alter disease progression in spinal and bulbar muscular atrophy. Testosterone supplementation can have potential adverse events when used at a supratherapeutic level, and prenatal testosterone exposure is believed to contribute to the pathogenesis of neurodevelopmental disease. Additionally, androgen-blocking ag …

Clinical Course, Myopathology and Challenge of Therapeutic Intervention in Pediatric Patients with Autoimmune-Mediated Necrotizing Myopathy.

(1) Background: Immune-mediated necrotizing myopathy (IMNM) is a rare form of inflammatory muscle disease which is even more rare in pediatr … nd despite further therapy escalation, developed a permanent reduction of their muscle strength and muscular atrophy. (4) Conclusions: Diagnosis of juvenile IMNM might be complicated by asymmetric muscle weakness, lack of cutaneous features, absence of prominent inflammatory changes in the biopsy, and altered α-dystroglycan.

Wet-Spun Trojan Horse Cell Constructs for Engineering Muscle.

Engineering of 3D regenerative skeletal muscle tissue constructs (skMTCs) using hydrogels containing muscle precursor cells (MPCs) is of potential benefit for repairing Volumetric Muscle Loss (VML) arising from trauma (e.g., road/industrial accident, war injury) or for restoration of functional muscle mass in disease (e.g., Muscular Dystrophy, muscle atrophy). Additive Biofabrication (AdBiofab) technologies make possible fabrication of 3D regenerative skMTCs that can be tailored to specific delivery requirements of VML or functional muscle restoration. Whilst 3D printing is useful for printing

Pediatric neuromuscular disorders: Care considerations during the COVID-19 pandemic.

COVID-19, the respiratory and frequently systemic disease caused by the novel SARS-COV-2 virus, was first recognized in December 2019 and qu … atients with neuromuscular diseases such as those with Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA), tend to be more medically fragile and have higher health care needs than the general population. Respiratory insufficiency, cardiac disease, obesity, and immunocompromised status due to chronic steroid treatments in certain patient population …

The New Paradigms in Clinical Research: From Early Access Programs to the Novel Therapeutic Approaches for Unmet Medical Needs.

Despite several innovative medicines gaining worldwide approval in recent years, there are still therapeutic areas for which unsatisfied the … t of asthma, antisense oligonucleotides for the treatment of Duchenne muscular dystrophy and spinal muscular atrophy, and new anticancer drugs that act on genetic biomarkers rather than any specific type of cancer. Even though EAPs and novel therapeutic approaches have brought huge benefits for public health, their implementation is limited by several challenges, …

Morpholino-Mediated Exon Inclusion for SMA.

The application of antisense oligonucleotides (AONs) to modify pre-messenger RNA splicing has great potential for treating genetic diseases. The strategies used to redirect splicing for therapeutic purpose involve the use of AONs complementary to splice motifs, enhancer or silencer sequences. AONs to block intronic splicing silencer motifs can efficiently augment exon 7 inclusion in survival motor neuron 2 (SMN2) gene and have demonstrated robust therapeutic effects in both preclinical studies and clinical trials in spinal muscular atrophy (SMA), which has led to a recently approved drug. AONs…

Curcumin: An effective adjunct in patients with statin-associated muscle symptoms?

In spite of the unequivocal efficacy of statins in reducing primary and secondary cardiovascular events, the use of these drugs in a conside … e delayed onset muscle soreness by blocking the nuclear factor inflammatory pathway, attenuation of muscular atrophy, enhancement of muscle fibre regeneration following injury, and analgesic and antioxidant effects. Curcumin can also increase the levels of cyclic adenosine monophosphate, which leads to an increase in the number of mitochondrial DNA duplicates in s …

Rigid Spine Syndrome among Children in Oman.

OBJECTIVES: Rigidity of the spine is common in adults but is rarely observed in children. The aim of this study was to report on rigid spine syndrome (RSS) among children in Oman. METHODS: Data on children diagnosed with RSS were collected consecutively at presentation between 1996 and 2014 at the Sultan Qaboos University Hospital (SQUH) in Muscat, Oman. A diagnosis of RSS was based on the patient's history, clinical examination, biochemical investigations, electrophysiological findings, neuro-imaging and muscle biopsy. Atrophy of the paraspinal muscles, particularly the erector spinae, was t

Effect of home mechanical in-exsufflation on hospitalisation and life-style in neuromuscular disease: a pilot study.

AIM: Mechanical in-exsufflation (MI-E) augments the weakened cough of patients with neuromuscular disease (NMD), clearing secretions and ove … mpact of MI-E on life-style for the child and family. RESULTS: Ten children with NMD (seven spinal muscular atrophy, two Duchenne muscular dystrophy and one centronuclear myopathy) using MI-E at home were identified. MI-E use commenced at mean age of 8.5 years (range 1.1-16.9) with 1.4 years of use (range 0.3-3.8). MI-E pressures ranged from +/-30 to 40 cmH2 O wi …

Use of cell-penetrating-peptides in oligonucleotide splice switching therapy.

The hydrophobic plasma membrane constitutes an indispensable barrier for cells, allowing influx of essential molecules while preventing acce … eutic strategy to treat various genetic disorders, including Duchenne muscular dystrophy and spinal muscular atrophy. Despite being efficient compounds to alter splicing patterns, their hydrophilic macromolecular nature prohibits efficient cellular internalization.Various chemical drug delivery vehicles have been developed aiming at improving the bioavailability o …

[Screening for hereditary neuromuscular disorders with molecular genetic methods in the Roma population of Hungary].

Recent medical genetic research has identified a number of novel, or previously known, but rare conditions, caused by private founder mutati … CCFDN), limb-girdle muscular dystrophy 2C (LGMD2C), congenital myasthenic syndrome (CMS) and spinal muscular atrophy (SMA). Following identification of the founder mutations, the possibility of prenatal diagnosis and carrier screening for family members will contribute to the decrease of the recurrence risk for these severe, mostly untreatable disorders.

RNA splicing manipulation: strategies to modify gene expression for a variety of therapeutic outcomes.

Antisense oligonucleotides initially offered great hope as specific compounds to modify gene expression, primarily through RNaseH induced de … d to a diverse range of conditions, including beta-thalassemia, Duchenne muscular dystrophy, spinal muscular atrophy and certain cancers. Alternative exon usage has been identified as a major mechanism for generating diversity from a limited repertoire of genes in higher eukaryotes. Considering that up to 75% of all human primary gene transcripts are reported to b …

[Atypical neuroleptic malignant syndrome].

Mr A ..., 38 years old, follow up for five years for an obsessional nevrosis, hospitalized for a serious breakdown with experiences of derea … sores on the heels, and vesicular symmetrical lesions on the ear lobes evoked a toxidermia. A large muscular atrophy of the lower limbs inducing an important muscular weakness and rising of the seric C.P.K. up to 12300 UI/l complete the clinical picture. One could notice the absence of any general symptoms, particularly a persisting apyrexia. The paraclinical eval …

[Neurologic syndromes affecting the shoulder (author's transl)].

A number of locally defined as well as generalised diseases of the peripheral nervous system is manifested in the shoulderarm region besides … ing to the shoulder in the manner of brachialgia paraesthetica. Finally, any noticeable weakness or muscular atrophy in the shoulder region should suggest a disease of the neuromuscular system, mainly progressive muscular dystrophy or the rare shoulder girdle type of amyotrophic lateral sclerosis.

AJRCCM: 100-Year Anniversary. Homeward Bound: A Centenary of Home Mechanical Ventilation.

The evolution of home mechanical ventilation is an intertwined chronicle of negative and positive pressure modes and their role in managing ventilatory failure in neuromuscular diseases and other chronic disorders. The uptake of noninvasive positive pressure ventilation has resulted in widespread growth in home ventilation internationally and fewer patients being ventilated invasively. As with many applications of domiciliary medical technology, home ventilatory support has either led or run in parallel with acute hospital applications and has been influenced by medical and societal shifts in

Accelerated sarcopenia precedes learning and memory impairments in the P301S mouse model of tauopathies and Alzheimer's disease.

BACKGROUND: Alzheimer's disease (AD) impairs cognitive functions and peripheral systems, including skeletal muscles. The PS19 mouse, expressing the human tau P301S mutation, shows cognitive and muscular pathologies, reflecting the central and peripheral atrophy seen in AD. METHODS: We analysed skeletal muscle morphology and neuromuscular junction (NMJ) through immunohistochemistry and advanced image quantification. A factorial Analysis of Variance assessed muscle weight, NCAM expression, NMJ, myofibre type distribution, cross-sectional areas, expression of single or multiple myosin heavy-chai