Publications by authors named "Tomoyoshi Shiroshita"
Article Synopsis
- Spinal muscular atrophy (SMA) is caused by mutations or deletions in the SMN1 gene, and the number of copies of the SMN2 gene can influence the disease's severity, though its effect is less clear in patients with intragenic SMN1 mutations.
- A study of 515 Japanese patients identified that out of 241 diagnosed with SMA, most had complete loss of SMN1, while a small percentage had retained SMN1 with various intragenic mutations.
- Findings suggest that the type of intragenic SMN1 mutation may play a larger role in determining disease severity compared to the number of SMN2 copies, indicating a complex relationship between these genetic factors.
Spinal muscular atrophy (SMA) is a lower motor neuron disease with autosomal recessive inheritance caused by homozygous deletions. Although SMA has been considered as incurable, newly developed drugs improve life prognoses and motor functions of patients. To maximize the efficacy of the drugs, SMA patients should be treated before symptoms become apparent.
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