Assessment of Bulbar Function in Adult Patients with 5q-SMA Type 2 and 3 under Treatment with Nusinersen
The antisense oligonucleotide nusinersen has been shown to improve trunk and limb motor function in patients with spinal muscular atrophy (SMA). Bulbar dysfunction, which is regularly present in SMA, is not captured by standard motor scores, and validated measurement instruments to assess it have no...
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| Format: | Article |
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MDPI AG
2021-09-01
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| Series: | Brain Sciences |
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| Online Access: | https://www.mdpi.com/2076-3425/11/9/1244 |
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| author | Svenja Brakemeier Benjamin Stolte Andreas Thimm Kathrin Kizina Andreas Totzeck Juan Munoz-Rosales Christoph Kleinschnitz Tim Hagenacker |
| author_facet | Svenja Brakemeier Benjamin Stolte Andreas Thimm Kathrin Kizina Andreas Totzeck Juan Munoz-Rosales Christoph Kleinschnitz Tim Hagenacker |
| author_sort | Svenja Brakemeier |
| collection | DOAJ |
| description | The antisense oligonucleotide nusinersen has been shown to improve trunk and limb motor function in patients with spinal muscular atrophy (SMA). Bulbar dysfunction, which is regularly present in SMA, is not captured by standard motor scores, and validated measurement instruments to assess it have not yet been established. Data on whether and how bulbar function changes under gene-based therapies in adult SMA patients are also unavailable. Here, we present data on the course of bulbar dysfunction assessed prospectively before nusinersen treatment initiation and 6 and 14 months later in 23 adult SMA patients using the Sydney Swallow Questionnaire (SSQ) and the bulbar subscore of the Amyotrophic Lateral Sclerosis Functional Rating Scale Revised (ALSFRS-R). While no improvement in bulbar scores was observed under treatment with nusinersen, the absence of a decline still implies a therapeutic effect of nusinersen on bulbar dysfunction. The results of this study aim to contribute to a standardized assessment of bulbar function in adult SMA patients, which may show therapeutic effects of gene-based therapies that are not evident from standard motor scores. |
| first_indexed | 2024-03-10T07:51:33Z |
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| id | doaj.art-af35b9c1d58e4494831d81ef69f773a7 |
| institution | Directory Open Access Journal |
| issn | 2076-3425 |
| language | English |
| last_indexed | 2024-03-10T07:51:33Z |
| publishDate | 2021-09-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Brain Sciences |
| spelling | doaj.art-af35b9c1d58e4494831d81ef69f773a72023-11-22T12:15:14ZengMDPI AGBrain Sciences2076-34252021-09-01119124410.3390/brainsci11091244Assessment of Bulbar Function in Adult Patients with 5q-SMA Type 2 and 3 under Treatment with NusinersenSvenja Brakemeier0Benjamin Stolte1Andreas Thimm2Kathrin Kizina3Andreas Totzeck4Juan Munoz-Rosales5Christoph Kleinschnitz6Tim Hagenacker7Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Hospital Essen, Hufelandstr. 55, 45147 Essen, GermanyDepartment of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Hospital Essen, Hufelandstr. 55, 45147 Essen, GermanyDepartment of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Hospital Essen, Hufelandstr. 55, 45147 Essen, GermanyDepartment of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Hospital Essen, Hufelandstr. 55, 45147 Essen, GermanyDepartment of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Hospital Essen, Hufelandstr. 55, 45147 Essen, GermanyDepartment of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Hospital Essen, Hufelandstr. 55, 45147 Essen, GermanyDepartment of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Hospital Essen, Hufelandstr. 55, 45147 Essen, GermanyDepartment of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Hospital Essen, Hufelandstr. 55, 45147 Essen, GermanyThe antisense oligonucleotide nusinersen has been shown to improve trunk and limb motor function in patients with spinal muscular atrophy (SMA). Bulbar dysfunction, which is regularly present in SMA, is not captured by standard motor scores, and validated measurement instruments to assess it have not yet been established. Data on whether and how bulbar function changes under gene-based therapies in adult SMA patients are also unavailable. Here, we present data on the course of bulbar dysfunction assessed prospectively before nusinersen treatment initiation and 6 and 14 months later in 23 adult SMA patients using the Sydney Swallow Questionnaire (SSQ) and the bulbar subscore of the Amyotrophic Lateral Sclerosis Functional Rating Scale Revised (ALSFRS-R). While no improvement in bulbar scores was observed under treatment with nusinersen, the absence of a decline still implies a therapeutic effect of nusinersen on bulbar dysfunction. The results of this study aim to contribute to a standardized assessment of bulbar function in adult SMA patients, which may show therapeutic effects of gene-based therapies that are not evident from standard motor scores.https://www.mdpi.com/2076-3425/11/9/1244spinal muscular atrophyASOALSFRS-RSSQswallowing |
| spellingShingle | Svenja Brakemeier Benjamin Stolte Andreas Thimm Kathrin Kizina Andreas Totzeck Juan Munoz-Rosales Christoph Kleinschnitz Tim Hagenacker Assessment of Bulbar Function in Adult Patients with 5q-SMA Type 2 and 3 under Treatment with Nusinersen Brain Sciences spinal muscular atrophy ASO ALSFRS-R SSQ swallowing |
| title | Assessment of Bulbar Function in Adult Patients with 5q-SMA Type 2 and 3 under Treatment with Nusinersen |
| title_full | Assessment of Bulbar Function in Adult Patients with 5q-SMA Type 2 and 3 under Treatment with Nusinersen |
| title_fullStr | Assessment of Bulbar Function in Adult Patients with 5q-SMA Type 2 and 3 under Treatment with Nusinersen |
| title_full_unstemmed | Assessment of Bulbar Function in Adult Patients with 5q-SMA Type 2 and 3 under Treatment with Nusinersen |
| title_short | Assessment of Bulbar Function in Adult Patients with 5q-SMA Type 2 and 3 under Treatment with Nusinersen |
| title_sort | assessment of bulbar function in adult patients with 5q sma type 2 and 3 under treatment with nusinersen |
| topic | spinal muscular atrophy ASO ALSFRS-R SSQ swallowing |
| url | https://www.mdpi.com/2076-3425/11/9/1244 |
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