Corrigendum: Association among biomarkers, phenotypes, and motor milestones in Chinese patients with 5q spinal muscular atrophy types 1-3.

[This corrects the article DOI: 10.3389/fneur.2024.

Lumbar Transforaminal Injections of Nusinersen in Spinal Muscular Atrophy Patients.

Following a review of spinal muscular atrophy pathogenesis and current therapeutics, a comprehensive review of transforaminal lumbar injections is provided. Patient preparation, special considerations, procedural technique, complications, and alternative approaches are discussed.

The Impact of Nusinersen Treatment on Respiratory Function in Patients with Spinal Muscular Atrophy: A Systematic Review.

: This systematic review evaluated the impact of nusinersen therapy on respiratory health and function in individuals with spinal muscular atrophy (SMA) and determined whether nusinersen improves pulmonary function, focusing on differences based on patient age and the timing of treatment initiation. : A systematic search of PubMed, Ovid Medline, ScienceDirect, and Web of Science databases was conducted up to January 2024 in accordance with the PRISMA guidelines. Thirteen studies were included, comprising clinical trials, observational studies, and case series that focused on respiratory outcomes in SMA patients treated with nusinersen.

Liver SMN restoration rescues the Smn mouse model of spinal muscular atrophy.

Background: The liver is a key metabolic organ, acting as a hub to metabolically connect various tissues. Spinal muscular atrophy (SMA) is a neuromuscular disorder whereby patients have an increased susceptibility to developing dyslipidaemia and liver steatosis. It remains unknown whether fatty liver is due to an intrinsic or extrinsic impact of survival motor neuron (SMN) protein depletion.

A causal inference framework for leveraging external controls in hybrid trials.

We consider the challenges associated with causal inference in settings where data from a randomized trial are augmented with control data from an external source to improve efficiency in estimating the average treatment effect (ATE). This question is motivated by the SUNFISH trial, which investigated the effect of risdiplam on motor function in patients with spinal muscular atrophy. While the original analysis used only data generated by the trial, we explore an alternative analysis incorporating external controls from the placebo arm of a historical trial.

Real-time measurement of radiation exposure in interventional radiologists during CT-guided intrathecal injections of nusinersen.

Purpose: Some patients with spinal muscular atrophy and scoliosis require CT guidance during injections of nusinersen. The radiation applied to the operator in such procedures becomes an important issue in terms of staff health and safety. The aim of the study was to assess the operator's radiation exposure during CT-guided nusinersen injections in patients with spinal muscular atrophy and scoliosis.

Spinal Muscular Atrophy: Current Medications and Re-purposed Drugs.

Spinal muscular atrophy (SMA) is an autosomal recessive genetic neuromuscular disorder that is characterized by gradual muscle weakness and atrophy due to the degeneration of alpha motor neurons that are present on the anterior horn of the spinal cord. Despite the comprehensive investigations conducted by global scientists, effective treatments or interventions remain elusive. The time- and resource-intensive nature of the initial stages of drug research underscores the need for alternate strategies like drug repurposing.

Treatment of spinal muscular atrophy.

Purpose Of Review: The aim of the review was to provide an overview of safety and efficacy of the available treatments including information from both clinical trials and real-world data. Additional information form ongoing studies using other approaches than increasing SMN protein are also reported.

Recent Findings: In the last 3 years, there have been over 24 studies reporting safety and the impact of the available drugs on different aspects of function, including respiratory and bulbar function.

SMN2 gene copy number affects the incidence and prognosis of motor neuron diseases in Japan.

Background: The copy number status (CNS) of the survival motor neuron (SMN) gene may influence the risk and prognosis of amyotrophic lateral sclerosis (ALS) and lower motor neuron diseases (LMND) other than spinal muscular atrophy (SMA). However, previous studies of this association, mainly from Europe, have yielded controversial results, suggesting possible regional differences. Here, we investigated the effect of the SMN gene in Japanese patients with ALS and LMND.

SMN depletion impairs skeletal muscle formation and maturation in a mouse model of SMA.

Spinal muscular atrophy (SMA) is characterized by low levels of the ubiquitously expressed Survival Motor Neuron (SMN) protein, leading to progressive muscle weakness and atrophy. Skeletal muscle satellite cells play a crucial role in muscle fiber maintenance, repair, and remodelling. While the effects of SMN depletion in muscle are well documented, its precise role in satellite cell function remains largely unclear.

Femoral neck-shaft angle changes based on the severity of neurologic impairment in children with cerebral palsy and spinal muscular atrophy.

Introduction: The neck-shaft angle and head-shaft angle in children with varying levels of neurological disability were evaluated to define change over different ages.

Methods: Children aged 1-12 years with spastic cerebral palsy, spinal muscular atrophy types 1 and 2, or typical development were reviewed to evaluate the neck-shaft angle and head-shaft angle. Patients were divided into five groups: Gross Motor Function Classification System levels I and II, Gross Motor Function Classification System level III, Gross Motor Function Classification System levels IV and V, spinal muscular atrophy types 1 and 2, and typical development.

Proteomic analysis of the SMN complex reveals conserved and etiologic connections to the proteostasis network.

Introduction: Molecular chaperones and co-chaperones are highly conserved cellular components that perform a variety of duties related to the proper three-dimensional folding of the proteome. The web of factors that carries out this essential task is called the proteostasis network (PN). Ribonucleoproteins (RNPs) represent an underexplored area in terms of the connections they make with the PN.

New evidence of vascular defects in neurodegenerative diseases revealed by single cell RNA sequencing.

Neurodegenerative diseases (NDs) involve the progressive loss of neuronal structure or function in the brain and spinal cord. Despite their diverse etiologies, NDs manifest similar pathologies. Emerging research identifies vascular defects as a previously neglected hallmark of NDs.