Motor unit gains in treated spinal muscular atrophy patients
| Autor: | Austin J. Sumner, Charlotte J. Sumner |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
medicine.medical_specialty
business.industry Spinal muscular atrophy Motor neuron medicine.disease SMA Motor function Clinical trial Motor unit 03 medical and health sciences Psychiatry and Mental health 0302 clinical medicine medicine.anatomical_structure Physical medicine and rehabilitation Splice switching medicine Surgery Nusinersen Neurology (clinical) business 030217 neurology & neurosurgery |
| Zdroj: | Journal of Neurology, Neurosurgery & Psychiatry. 92:6-6 |
| ISSN: | 1468-330X 0022-3050 |
| DOI: | 10.1136/jnnp-2020-325022 |
| Popis: | Over the last 5 years, three gene-targeting therapeutics have been approved for spinal muscular atrophy (SMA) including the splice switching oligonucleotide nusinersen in 2016, the gene therapy onasemnogene abepavovec in 2019 and the splice switching small molecule risdiplam in 2020. Although past and ongoing clinical trials demonstrate improvements in motor function scores in treated SMA patients of variable magnitude, the changes of motor neuron structure and function that underlie these clinical outcomes are unknown. In the paper by Kariyawasam et al 1 this knowledge gap is explored in 20 children with symptomatic SMA of various types, who were treated with nusinersen for 1–2 years in the commercial setting and evaluated sequentially with a novel motor unit … |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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