Myopathic changes caused by protein aggregates in adult-onset spinal muscular atrophy.

IF 1.3 4区 医学 Q4 CLINICAL NEUROLOGY
Neuropathology Pub Date : 2023-10-01 Epub Date: 2023-03-02 DOI:10.1111/neup.12901
Satoshi Yamashita, Akihito Nagatoshi, Yosuke Takeuchi, Ichizo Nishino, Mitsuharu Ueda
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引用次数: 0

Abstract

Spinal muscular atrophy (SMA), an autosomal-recessive lower motor neuron disease, causes progressive proximal muscle waste and weakness. It remains unclear whether myopathic changes are involved in pathogenesis. We encountered a patient with adult-onset SMA caused by a homozygous deletion in exon 7 of the survival motor neuron 1 (SMN1) gene who had had four copies of SMN2 exon 7. Muscle biopsy showed neurogenic features of groups of atrophic fibers, fiber-type grouping, and pyknotic nuclear clumps associated with fibers with rimmed vacuoles. Immunohistochemistry revealed sarcoplasmic aggregates of phosphorylated TDP-43 and p62 but not SMN. This study demonstrated myopathic changes with the accumulation of phosphorylated p62 and TDP-43 in the muscles of a patient with SMA, suggesting that abnormal protein aggregation may be involved in myopathic pathology.

成人发作性脊髓性肌萎缩中蛋白质聚集体引起的肌病变。
脊髓性肌萎缩(SMA)是一种常染色体隐性下运动神经元疾病,可导致进行性近端肌肉浪费和无力。目前尚不清楚肌病的变化是否与发病机制有关。我们遇到了一名成年发作性SMA患者,该患者由存活运动神经元1(SMN1)基因外显子7的纯合缺失引起,该患者具有四个拷贝的SMN2外显子。肌肉活检显示萎缩纤维组的神经源性特征,纤维类型分组,与带边框液泡的纤维相关的固缩性核团。免疫组织化学显示磷酸化TDP-43和p62的肌浆聚集体,但不显示SMN。这项研究表明,SMA患者肌肉中磷酸化p62和TDP-43的积累引起了肌病的变化,这表明异常的蛋白质聚集可能与肌病病理有关。
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来源期刊
Neuropathology
Neuropathology 医学-病理学
CiteScore
4.10
自引率
4.30%
发文量
105
审稿时长
6-12 weeks
期刊介绍: Neuropathology is an international journal sponsored by the Japanese Society of Neuropathology and publishes peer-reviewed original papers dealing with all aspects of human and experimental neuropathology and related fields of research. The Journal aims to promote the international exchange of results and encourages authors from all countries to submit papers in the following categories: Original Articles, Case Reports, Short Communications, Occasional Reviews, Editorials and Letters to the Editor. All articles are peer-reviewed by at least two researchers expert in the field of the submitted paper.
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