Spinal Muscular Atrophy

被引：42

作者：

Nicolau, Stefan ^{[1
]}

Waldrop, Megan A. ^{[1
,2
,3
]}

Connolly, Anne M. ^{[1
,2
,3
]}

Mendell, Jerry R. ^{[1
,2
,3
]}

机构：

[1] Nationwide Childrens Hosp, Ctr Gene Therapy, Abigail Wexner Res Inst, 700 Childrens Dr, Columbus, OH 43205 USA

[2] Ohio State Univ, Dept Pediat, Columbus, OH 43210 USA

[3] Ohio State Univ, Dept Neurol, Columbus, OH 43210 USA

来源：

SEMINARS IN PEDIATRIC NEUROLOGY | 2021年 / 37卷

关键词：

ADENOASSOCIATED VIRUS VECTOR; MOTOR-NEURON GENE; NATURAL-HISTORY; SHAM CONTROL; NUSINERSEN; DIAGNOSIS; SURVIVAL; DISEASE; SALBUTAMOL; PULMONARY;

D O I：

10.1016/j.spen.2021.100878

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Spinal muscular atrophy is one of the most common neuromuscular disorders of childhood and has high morbidity and mortality. Three different disease-modifying treatments were introduced in the last 4 years: nusinersen, onasemnogene abeparvovec, and risdiplam. These agents have demonstrated safety and efficacy, but their long-term benefits require further study. Newborn screening programs are enabling earlier diagnosis and treatment and better outcomes, but respiratory care and other supportive measures retain a key role in the management of spinal muscular atrophy. Ongoing efforts seek to optimize gene therapy vectors, explore new therapeutic targets beyond motor neurons, and evaluate the role of combination therapy.(C) 2021 Elsevier Inc. All rights reserved.

引用

页数：7

共 96 条

[1] Health outcomes in spinal muscular atrophy type 1 following AVXS-101 gene replacement therapy [J].

Al-Zaidy, Samiah ;

Pickard, A. Simon ;

Kotha, Kavitha ;

Alfano, Lindsay N. ;

Lowes, Linda ;

Paul, Grace ;

Church, Kathleen ;

Lehman, Kelly ;

Sproule, Douglas M. ;

Dabbous, Omar ;

Maru, Benit ;

Berry, Katherine ;

Arnold, W. David ;

Kissel, John T. ;

Mendell, Jerry R. ;

Shell, Richard .

PEDIATRIC PULMONOLOGY, 2019, 54 (02) :179-185

[2] Lack of myostatin results in excessive muscle growth but impaired force generation [J].

Amthor, Helge ;

Macharia, Raymond ;

Navarrete, Roberto ;

Schuelke, Markus ;

Brown, Susan C. ;

Otto, Anthony ;

Voit, Thomas ;

Muntoni, Francesco ;

Vrbova, Gerta ;

Partridge, Terence ;

Zammit, Peter ;

Bunger, Lutz ;

Patel, Ketan .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2007, 104 (06) :1835-1840

[3] CK-2127107 amplifies skeletal muscle response to nerve activation in humans [J].

Andrews, Jinsy A. ;

Miller, Timothy M. ;

Vijayakumar, Vipin ;

Stoltz, Randall ;

James, Joyce K. ;

Meng, Lisa ;

Wolff, Andrew A. ;

Malik, Fady I. .

MUSCLE & NERVE, 2018, 57 (05) :729-734

[4]

[Anonymous], 2017, Obstet Gynecol, V129, pe41, DOI 10.1097/AOG.0000000000001952

[5]

Arnold Eveline S, 2018, Handb Clin Neurol, V148, P591, DOI 10.1016/B978-0-444-64076-5.00038-7

[6] International survey of physician recommendation for tracheostomy for spinal muscular atrophy Type I [J].

Benson, Renee C. ;

Hardy, Karen A. ;

Gildengorin, Ginny ;

Hsia, Danny .

PEDIATRIC PULMONOLOGY, 2012, 47 (06) :606-611

[7] Treatment Advances in Spinal Muscular Atrophy [J].

Bharucha-Goebel, Diana ;

Kaufmann, Petra .

CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS, 2017, 17 (11)

[8] Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2 [J].

Cartegni, L ;

Hastings, ML ;

Calarco, JA ;

de Stanchina, E ;

Krainer, AR .

AMERICAN JOURNAL OF HUMAN GENETICS, 2006, 78 (01) :63-77

[9] Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1 [J].

Cartegni, L ;

Krainer, AR .

NATURE GENETICS, 2002, 30 (04) :377-384

[10] New and Developing Therapies in Spinal Muscular Atrophy: From Genotype to Phenotype to Treatment and Where Do We Stand? [J].

Chen, Tai-Heng .

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2020, 21 (09)

← 1 2 3 4 5 6 7 8 9 10 →