High-frequency epidural electrical stimulation reduces spasticity and facilitates walking recovery in patients with spinal cord injury.

Spinal cord injury (SCI) causes severe motor and sensory deficits, and there are currently no approved treatments for recovery. Nearly 70% of patients with SCI experience pathological muscle cocontraction and spasticity, accompanied by clinical signs such as patellar hyperreflexia and ankle clonus. The integration of epidural electrical stimulation (EES) of the spinal cord with rehabilitation has substantial potential to improve recovery of motor functions; however, abnormal muscle cocontraction and spasticity may limit the benefit of these interventions and hinder the effectiveness of EES in promoting functional movements.

Muscle hypertrophy following acquired neurogenic injury: systematic review and analysis of existing literature.

Objectives: Neurogenic muscle hypertrophy (NMH) is a rare condition characterized by focal muscle hypertrophy caused by chronic partial nervous injury. Given its infrequency, underlying mechanisms remain poorly understood. Inspired by two clinical cases, we conducted a systematic review to gain insights into the different aspects of NMH.

Activation of XBP1s attenuates disease severity in models of proteotoxic Charcot-Marie-Tooth type 1B.

Mutations in myelin protein zero (MPZ) are generally associated with Charcot-Marie-Tooth type 1B (CMT1B) disease, one of the most common forms of demyelinating neuropathy. Pathogenesis of some MPZ mutants, such as S63del and R98C, involves the misfolding and retention of MPZ in the endoplasmic reticulum (ER) of myelinating Schwann cells. To cope with proteotoxic ER-stress, Schwann cells mount an unfolded protein response (UPR) characterized by activation of the PERK, ATF6 and IRE1α/XBP1 pathways.

Cervical motion alterations and brain functional connectivity in cervical dystonia.

Introduction: Evaluating the neural correlates of sensorimotor control deficits in cervical dystonia (CD) is fundamental to plan the best treatment. This study aims to assess kinematic and resting-state functional connectivity (RS-FC) characteristics in CD patients relative to healthy controls.

Methods: Seventeen CD patients and 14 age-/sex-matched healthy controls were recruited.

Structured wound angiogenesis instructs mesenchymal barrier compartments in the regenerating nerve.

Organ injury stimulates the formation of new capillaries to restore blood supply raising questions about the potential contribution of neoangiogenic vessel architecture to the healing process. Using single-cell mapping, we resolved the properties of endothelial cells that organize a polarized scaffold at the repair site of lesioned peripheral nerves. Transient reactivation of an embryonic guidance program is required to orient neovessels across the wound.

Corrigendum to "Going for a stroll on lurasidone: Considerations on an atypical case of acute compartment syndrome of both legs" [Heliyon 9(4) (April 2023) e15047].

[This corrects the article DOI: 10.1016/j.heliyon.

Interstitial 6q deletion in a patient presenting with drug-resistant epilepsy and Prader-Willi like phenotype: An electroclinical description with literature review.

Purpose: Interstitial 6q deletions are associated with rare genetic syndromes characterized by different signs, including developmental delay, dysmorphisms, and Prader-Willi (PWS)-like features. Drug-resistant epilepsy, a relatively rare finding in this condition, is often a challenge in terms of therapeutic approach. Our aim is to present a new case of interstitial 6q deletion and to conduct a systematic review of the literature with an emphasis on the neurophysiological and clinical traits of afflicted individuals.

Treatment with IFB-088 Improves Neuropathy in CMT1A and CMT1B Mice.

Charcot-Marie-Tooth disease type 1A (CMT1A), caused by duplication of the peripheral myelin protein 22 (PMP22) gene, and CMT1B, caused by mutations in myelin protein zero (MPZ) gene, are the two most common forms of demyelinating CMT (CMT1), and no treatments are available for either. Prior studies of the MpzSer63del mouse model of CMT1B have demonstrated that protein misfolding, endoplasmic reticulum (ER) retention and activation of the unfolded protein response (UPR) contributed to the neuropathy. Heterozygous patients with an arginine to cysteine mutation in MPZ (MPZR98C) develop a severe infantile form of CMT1B which is modelled by MpzR98C/ + mice that also show ER stress and an activated UPR.

Integrated evaluation of a panel of neurochemical biomarkers to optimize diagnosis and prognosis in amyotrophic lateral sclerosis.

Background And Purpose: This study was undertaken to determine the diagnostic and prognostic value of a panel of serum biomarkers and to correlate their concentrations with several clinical parameters in a large cohort of patients with amyotrophic lateral sclerosis (ALS).

Methods: One hundred forty-three consecutive patients with ALS and a control cohort consisting of 70 patients with other neurodegenerative disorders (DEG), 70 patients with ALS mimic disorders (ALSmd), and 45 healthy controls (HC) were included. Serum neurofilament light chain (NfL), ubiquitin carboxyl-terminal hydrolase isozyme L1 (UCHL1), glial fibrillary acidic protein (GFAP), and total tau protein levels were measured using ultrasensitive single molecule array.

Intraoperative electroneurography-guided intercostal nerve cryoablation for pain control after thoracoabdominal aneurysm open surgical repair.

Background: Postoperative pain after thoracoabdominal (TAAA) or thoracic (TAA) aortic aneurysm open surgical repair may be debilitating and induce limitations in mobilization resulting in a longer length of stay, higher rate of pulmonary adverse events, readmissions, and a higher risk of mortality. Commonly employed analgesic strategies do not completely solve this issue and have their own drawbacks. Cryoablation of intercostal nerves has been proposed as an appealing alternative to address the postoperative pain.

ADAM17 Regulates p75-Mediated Fibrinolysis and Nerve Remyelination.

We previously reported that a-disintegrin and metalloproteinase (ADAM)17 is a key protease regulating myelin formation. We now describe a role for ADAM17 during the Wallerian degeneration (WD) process. Unexpectedly, we observed that glial ADAM17, by regulating p75 processing, cell autonomously promotes remyelination, while neuronal ADAM17 is dispensable.

Lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access.

Background: Effective treatment for metachromatic leukodystrophy (MLD) remains a substantial unmet medical need. In this study we investigated the safety and efficacy of atidarsagene autotemcel (arsa-cel) in patients with MLD.

Methods: This study is an integrated analysis of results from a prospective, non-randomised, phase 1/2 clinical study and expanded-access frameworks.

Intraoperative neurophysiologic monitoring in thoracoabdominal aortic aneurysm surgery can provide real-time feedback for strategic decision making.

Objectives: Despite the introduction of several adjuncts to improve spinal perfusion, spinal cord ischemia (SCI) remains a devastating complication of thoracoabdominal aortic aneurysm (TAAA) repair. Our aim was to assess the effects on clinical outcome of interventions triggered by motor evoked potentials (MEP) alerts. Furthermore, we want to assess whether a multimodal intraoperative neurophysiologic monitoring (IONM) protocol is helpful for stratifying patients according to the risk of SCI at the end of the vascular phase of surgery.

Metachromatic leukodystrophy: A single-center longitudinal study of 45 patients.

In this study, we characterize the natural course of metachromatic leukodystrophy (MLD), explore intra/inter group differences, and identify biomarkers to monitor disease progression. This is a longitudinal observational study. Genotype and characteristics at disease onset were recorded.

Surgical and Radiologic Prognostic Factors in Intramedullary Spinal Cord Lesions.

Objective: The present study aimed to perform a comprehensive data analysis of 47 consecutive patients treated in 8 years and to observe how clinical, radiologic, and surgical factors affect early and long-term outcomes, recurrence rate, and survival.

Methods: Clinical, radiologic, and surgical data were collected retrospectively from the review of a prospectively collected database. The neurologic disability was evaluated according to the modified Rankin Scale (mRS).

Electrophysiological features of acute inflammatory demyelinating polyneuropathy associated with SARS-CoV-2 infection.

Objective: To assess whether patients with acute inflammatory demyelinating polyneuropathy (AIDP) associated with SARS-CoV-2 show characteristic electrophysiological features.

Methods: Clinical and electrophysiological findings of 24 patients with SARS-CoV-2 infection and AIDP (S-AIDP) and of 48 control AIDP (C-AIDP) without SARS-CoV-2 infection were compared.

Results: S-AIDP patients more frequently developed respiratory failure (83.

Dysregulation of myelin synthesis and actomyosin function underlies aberrant myelin in CMT4B1 neuropathy.

Charcot-Marie-Tooth type 4B1 (CMT4B1) is a severe autosomal recessive demyelinating neuropathy with childhood onset, caused by loss-of-function mutations in the myotubularin-related 2 () gene. MTMR2 is a ubiquitously expressed catalytically active 3-phosphatase, which in vitro dephosphorylates the 3-phosphoinositides PtdIns3 and PtdIns(3,5), with a preference for PtdIns(3,5) A hallmark of CMT4B1 neuropathy are redundant loops of myelin in the nerve termed myelin outfoldings, which can be considered the consequence of altered growth of myelinated fibers during postnatal development. How MTMR2 loss and the resulting imbalance of 3'-phosphoinositides cause CMT4B1 is unknown.

Nerve Compression Injuries After Prolonged Prone Position Ventilation in Patients With SARS-CoV-2: A Case Series.

Background: Prone positioning improves oxygenation in adult respiratory distress syndrome. This procedure has been widely used during the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic. However, this procedure can also be responsible for nerve damage and plexopathy.

Guillain-Barré syndrome and COVID-19: an observational multicentre study from two Italian hotspot regions.

Objective: Single cases and small series of Guillain-Barré syndrome (GBS) have been reported during the SARS-CoV-2 outbreak worldwide. We evaluated incidence and clinical features of GBS in a cohort of patients from two regions of northern Italy with the highest number of patients with COVID-19.

Methods: GBS cases diagnosed in 12 referral hospitals from Lombardy and Veneto in March and April 2020 were retrospectively collected.

Phosphorylation of eIF2α Promotes Schwann Cell Differentiation and Myelination in CMT1B Mice with Activated UPR.

Myelin Protein Zero (MPZ/P0) is the most abundant glycoprotein of peripheral nerve myelin. P0 is synthesized by myelinating Schwann cells, processed in the endoplasmic reticulum (ER) and delivered to myelin via the secretory pathway. The mutant P0S63del (deletion of serine 63 in the extracellular domain of P0), that causes Charcot-Marie-Tooth type 1B (CMT1B) neuropathy in humans and a similar demyelinating neuropathy in transgenic mice, is instead retained the ER where it activates an unfolded protein response.