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The MORC2 p.S87L mutation reduces proliferation of pluripotent stem cells derived from a patient with the spinal muscular atrophy-like phenotype by inhibiting proliferation-related signaling pathways
Mutations in the microrchidia CW-type zinc finger protein 2 (MORC2) gene are the causative agent of Charcot-Marie-Tooth disease type 2Z (CMT2Z), and the hotspot mutation p.S87L is associated with a more severe spinal muscular atrophy-like clinical phenotype.
Hip Pain in Nonambulatory Children with Type-I or II Spinal Muscular Atrophy
The purpose of the present study was to define the prevalence of hip pain in nonambulatory children with spinal muscular atrophy (SMA) (type I or II) treated with aggressive medical management, prior to widespread use of disease-modifying therapies (DMTs).
Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies
Spinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in the SMN1 gene. The aim of this study was to assess the prevalence of SMA and treatment prescription in Italy.
Axonal mRNA localization and local translation in neurodegenerative disease
The regulation of mRNA localization and local translation play vital roles in the maintenance of cellular structure and function. Many human neurodegenerative diseases, such as fragile X syndrome, amyotrophic lateral sclerosis...
Systematic Review of Motor Function Scales and Patient-Reported Outcomes in Spinal Muscular Atrophy
Spinal muscular atrophy is a heterogeneous disease that results in loss of motor function. In an evolving treatment landscape, establishing the suitability and limitations of existing motor function scales and patient-reported outcomes used to monitor patients with this disease is important.
Scoliosis in Spinal Muscular Atrophy Type 1 in the Nusinersen Era
The introduction of spinal muscular dystrophy (SMA) modifying therapies, such as antisense oligonucleotide therapy has changed the natural history of SMA. Most reports on treatment outcomes have focused on motor scores and respiratory function. However, the impact of this novel therapy on the progression of scoliosis is not known.
Adult-Onset Spinal Muscular Atrophy due to Mutations in the VRK1 Gene
Objective: To expand our knowledge of the range of clinical phenotypes associated with vaccinia-related kinase 1 (VRK1) gene mutations.
Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study
Objective: To describe the respiratory trajectories and their correlation with motor function in an international pediatric cohort of patients with type 2 and nonambulant type 3 spinal muscular atrophy (SMA).
Emerging concepts underlying selective neuromuscular dysfunction in infantile-onset spinal muscular atrophy
Infantile-onset spinal muscular atrophy is the quintessential example of a disorder characterized by a predominantly neurodegenerative phenotype that nevertheless stems from perturbations in a housekeeping protein. Resulting from low levels of the Survival of Motor Neuron (SMN) protein, spinal muscular atrophy manifests mainly as a lower motor neuron disease.
