Later efficacy of nusinersen treatment in adult patients with spinal muscular atrophy: A retrospective case study with a median 4-year follow-up.

Background: Spinal muscular atrophy (SMA) is a hereditary neuromuscular disorder characterized by skeletal muscle atrophy and weakness. New treatments for SMA have been developed namely, the drugs nusinersen, onasemnogene abeparvovec, and risdiplam. However, there are limited reports on their effects on adult patients with SMA, particularly over long periods.

Immunogenicity of SARS-CoV-2 mRNA intramuscular vaccination in patients with muscular disorders.

Backgrounds: Little clinical data is available on severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in patients with muscular disorders (MDs). The immunogenicity of SARS-CoV-2 vaccines against MDs, in particular, remains unknown. Thus, this study aimed to confirm the immunogenicity and safety of the SARS-CoV-2 vaccine against MDs.

ITIH4 and Gpx3 are potential biomarkers for amyotrophic lateral sclerosis.

The diagnosis of amyotrophic lateral sclerosis (ALS) is difficult due to lack of definitive biomarkers. Our aim was to identify characteristic serum protein patterns that could provide candidate biomarkers for ALS. We divided mutant superoxide dismutase-1 (SOD1)(H46R) rats into three groups based on disease progression: pre-symptom (90 days), onset, and end-stage.

Secondary tethered cord syndrome in spinal dysraphism.

Secondary tethered cord syndrome following initial repair for spinal dysraphism is an important area of interest. In this study, 32 cases with spinal dysraphism in the lumbosacral region were enrolled, in whom radical repair with autologous material had been carried out in the early stage soon after birth. During the follow-up period of up to 19 years 10 months, surgery was considered to be indicated in 2 of the 8 lipomeningocele cases and in 6 of the 24 meningocele and meningomyelocele cases, because of the presence of tethered cord syndrome 4-19 years after the primary operation.