Nusinersen induces detectable changes in compound motor action potential response in spinal muscular atrophy type 1 patients with severe impairment of motor function

Ueda, Yuki; Egawa, Kiyoshi; Kawamura, Kentaro; Ochi, Noriki; Goto, Takeru; Kimura, Shuhei; Narugami, Masashi; Nakakubo, Sachiko; Nakajima, Midori; Manabe, Atsushi; Shiraishi, Hideaki

Nusinersen induces detectable changes in compound motor action potential response in spinal muscular atrophy type 1 patients with severe impairment of motor function

Ueda, Yuki; Egawa, Kiyoshi; Kawamura, Kentaro et al.

Brain and development, 2024, 46(3), 149-153

Permalink : https://hdl.handle.net/2115/94710

このアイテムのアクセス数:170件（2026-07-15 01:40 集計）

閲覧可能ファイル

ファイル	フォーマット	サイズ	閲覧回数	説明
HUSCAP_BRADEV03071_R1	pdf	815 KB	71

論文情報

ファイル出力 EndNote Basic出力 Mendeley出力

アクセス権	open access
URI	https://hdl.handle.net/2115/94710
タイトル	Nusinersen induces detectable changes in compound motor action potential response in spinal muscular atrophy type 1 patients with severe impairment of motor function
著者	Ueda, Yuki ; Egawa, Kiyoshi ; Kawamura, Kentaro ; Ochi, Noriki ; Goto, Takeru ; Kimura, Shuhei ; Narugami, Masashi ; Nakakubo, Sachiko ; Nakajima, Midori ; Manabe, Atsushi ; Shiraishi, Hideaki
著者名 Ueda, Yuki
e-Rad_Researcher 40450829 著者名 Egawa, Kiyoshi
著者名 Kawamura, Kentaro
著者名 Ochi, Noriki
著者名 Goto, Takeru
著者名 Kimura, Shuhei
著者名 Narugami, Masashi
著者名 Nakakubo, Sachiko
著者名 Nakajima, Midori
e-Rad_Researcher 20292849 著者名 Manabe, Atsushi
e-Rad_Researcher 80374411 著者名 Shiraishi, Hideaki
言語	英語
キーワード	Spinal muscular atrophy
	Nusinersen
	Severe impairment of motor function
	Nerve conduction study
	Compound motor action potential
発行日	2024-03
出版者	Elsevier
収録物名	Brain and development
巻(号)	46(3)
ページ	149-153
抄録	Background Most long-term affected spinal muscular atrophy (SMA) type 1 patients have severe impairment of motor function and are dependent on mechanical ventilation with tracheostomy. The efficacy and safety of nusinersen in these patients have not been established. Methods We retrospectively evaluated the efficacy of intrathecal nusinersen treatment in patients with SMA type 1 who continued treatment for at least 12 months. There were three patients enrolled in our study (3, 4 and 16 years of age) who had severe impairment of gross motor function without head control or the ability to roll over. All three needed mechanical ventilation with tracheostomy and tube feeding. Motor function was assessed using the Children s Hospital of Philadelphia infant test of neuromuscular disorders (CHOP-INTEND) and the caregivers’ evaluations. Concurrently, we examined nerve conduction longitudinally and compared compound motor action potential (CMAP) amplitudes. Results All patients continued nusinersen administration without significant adverse events for more than three years. While CHOP-INTEND scores did not remarkably increase, according to the caregivers, all three patients had improved finger or facial muscle movements that enabled them to make their intentions understood. Some CMAPs before treatment were not identified but became traces after nusinersen administration. Conclusions The improvement in motor function that leads to smoother communication could be a basis for continuing nusinersen treatment. Currently available motor function scorings are not efficient for assessing therapeutic interventions in SMA patients with medical care complexity. Longitudinal nerve conduction studies could be an objective indicator.
資源タイプ	学術雑誌論文
出版タイプ	Accepted Manuscript
権利情報	Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International
権利情報	© 2024. This manuscript version is made available under the CC-BY-NC-ND 4.0 license http://creativecommons.org/licenses/by-nc-nd/4.0/
PISSN	0387-7604
関連情報 (isVersionOf)	出版社版DOI https://doi.org/10.1016/j.braindev.2023.12.001