Background: Spinal muscular atrophy (SMA) is the second most common lethal autosomal recessive disease. It is a neuromuscular disorder caused by degenerative of lower motor neurons and occasionally bulbar neurons leading to progressive limb paralysis and muscular atrophy. The SMN1 gene is recognized as a SMA causing gene while NAIP has been characterized as a modifying factor for the clinical ...

随意運動は主として上位運動ニューロン，下位運動ニューロン，骨格筋により制御されるが，そのうち下位運動ニューロンが選択的に変性する疾患が下位運動ニューロン疾患であり，その代表的なものが球脊髄性筋萎縮症と脊髄性筋萎縮症である．両疾患はいずれも遺伝性疾患であり，分子病態に即した疾患修飾治療法が開発・実用化され，リアルワールドエビデンスの構築に向けた研究も進んでいる．さらに脊髄性筋萎縮症については，新生児スクリーニングによる発症前の診断・治療が進んでいる．

Spinal muscular atrophy is an inherited motor neuron disease that results from a deficiency of the survival of motor neuron (SMN) protein. SMN is ubiquitinated and degraded through the ubiquitin proteasome system (UPS). We have previously shown that proteasome inhibition increases SMN protein levels, improves motor function, and reduces spinal cord, muscle, and neuromuscular junction pathology ...

Background: Spinal muscular atrophy (SMA) is a genetic motor neuron disease caused by mutations in the SMN1 (Survival Motor Neuron) gene, which leads to hypotonia and muscle weakness with high mortality related respiratory involvement. Gene therapy (GT) (onasemnogeno aberpavovec) for SMA, through an adeno-associated viral vector 9 (AAV9) was recently approved our country, but its safety efficac...

Spinal muscular atrophy (SMA) is a hereditary childhood disease that causes paralysis and progressive degeneration of skeletal muscles and spinal motor neurons. SMA is associated with reduced levels of full-length Survival of Motor Neuron (SMN) protein, due to mutations in the Survival of Motor Neuron 1 gene. Nowadays there are no effective therapies available to treat patients with SMA, so our...

Background: Spinal muscular atrophy (SMA) is a genetic motor neuron disease caused by mutations in the SMN1 (Survival Motor Neuron) gene, which leads to hypotonia, muscle weakness and respiratory involvement. Its most severe form, SMA type 1, starts before 6 months of life has high mortality due ventilatory failure. Nusinersen, first approved treatment for SMA, an antisense oligonucleotide intr...

Two sibs affected by the severe neonatal form of spinal muscular atrophy (SMA) with diaphragmatic paralysis are described. The two sibs were discordant for the haplotypes determined by DNA markers flanking the SMA locus. This supports non-linkage of SMA to chromosome 5 in this family and indicates that the uncommon SMA type I variant associated with early onset respiratory failure maps outside ...

Spinal muscular atrophy (SMA) is a heterogeneous, autosomal-recessive neuromuscular disorder affecting the lower motor neurons. It is characterized by loss of the anterior horn cells in the spinal cord and cranial nerves nuclei. Patients present weakness and muscle wasting. Fasciculations are usually present, especially in the tongue (see video on the Neurology® Web site at Neurology.org). Alth...