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年度十大发现:神经肌肉疾病。

Top ten discoveries of the year: Neuromuscular disease.

作者信息

Margeta Marta

机构信息

Department of Pathology, University of California, San Francisco, CA, USA.

出版信息

Free Neuropathol. 2020 Jan 23;1:4. doi: 10.17879/freeneuropathology-2020-2627. eCollection 2020 Jan.

Abstract

This review highlights ten important advances in the neuromuscular disease field that either were first reported in 2019, or have reached a broad consensus during that year. The overarching topics include (i) new / emerging diseases; (ii) advances in understanding of disease etiology and pathogenesis; (iii) diagnostic advances; and (iv) therapeutic advances. Within this broad framework, the individual disease entities that are discussed in more detail include myoglobinopathy, -mutated limb-girdle muscular dystrophy, neuromuscular adverse events associated with the immune checkpoint inhibition therapy, neuroglial stem cell-derived inflammatory pseudotumor of the spinal cord and spinal cord roots, acute flaccid myelitis, congenital myopathies, idiopathic inflammatory myopathies (with particular emphasis on immune-mediated necrotizing myopathies and sporadic inclusion body myositis), spinal muscular atrophy, and Duchenne muscular dystrophy. In addition, the review highlights several diagnostic advances (such as diagnostic RNA sequencing and development of digital diagnostic tools) that will likely have a significant impact on the overall neuromuscular disease field going forward.

摘要

本综述重点介绍了神经肌肉疾病领域的十项重要进展,这些进展要么在2019年首次报道,要么在该年达成了广泛共识。总体主题包括:(i)新出现的疾病;(ii)对疾病病因和发病机制理解的进展;(iii)诊断进展;以及(iv)治疗进展。在这个广泛的框架内,更详细讨论的具体疾病实体包括肌红蛋白病、突变型肢带型肌营养不良、与免疫检查点抑制疗法相关的神经肌肉不良事件、神经胶质干细胞衍生的脊髓和脊髓神经根炎性假瘤、急性弛缓性脊髓炎、先天性肌病、特发性炎性肌病(特别强调免疫介导的坏死性肌病和散发性包涵体肌炎)、脊髓性肌萎缩症和杜氏肌营养不良症。此外,该综述还强调了一些诊断进展(如诊断性RNA测序和数字诊断工具的开发),这些进展可能会对未来整个神经肌肉疾病领域产生重大影响。

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本文引用的文献

1
244th ENMC international workshop: Newborn screening in spinal muscular atrophy May 10-12, 2019, Hoofdorp, The Netherlands.
Neuromuscul Disord. 2020 Jan;30(1):93-103. doi: 10.1016/j.nmd.2019.11.002. Epub 2019 Nov 9.
2
ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy.
Ann Neurol. 2020 Feb;87(2):217-232. doi: 10.1002/ana.25660. Epub 2019 Dec 27.
4
KBTBD13 is an actin-binding protein that modulates muscle kinetics.
J Clin Invest. 2020 Feb 3;130(2):754-767. doi: 10.1172/JCI124000.
7
Pan-viral serology implicates enteroviruses in acute flaccid myelitis.
Nat Med. 2019 Nov;25(11):1748-1752. doi: 10.1038/s41591-019-0613-1. Epub 2019 Oct 21.
8
POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy.
Ann Neurol. 2019 Dec;86(6):832-843. doi: 10.1002/ana.25620. Epub 2019 Oct 28.
9
Autophagy Defects in Skeletal Myopathies.
Annu Rev Pathol. 2020 Jan 24;15:261-285. doi: 10.1146/annurev-pathmechdis-012419-032618. Epub 2019 Oct 8.
10
One Year of Newborn Screening for SMA - Results of a German Pilot Project.
J Neuromuscul Dis. 2019;6(4):503-515. doi: 10.3233/JND-190428.

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