Clinical spectrum of valosin containing protein (VCP)-opathy
Clinical spectrum of valosin containing protein (VCP)-opathy
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DOI：
10.1002/mus.24980
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发表时间：
2016-07-01
期刊：
影响因子：
3.4
通讯作者：
Milone, Margherita
中科院分区：
文献类型：
--
作者：
Kazamel, Mohamed;Sorenson, Eric J.;Milone, Margherita
简介：含有瓦洛辛的蛋白（VCP）突变引起一种罕见的疾病，其特征为遗传性包涵体肌病、佩吉特骨病（PDB）和额颞叶痴呆（FTD），伴有可变的痴呆率。VCP突变也与肌萎缩侧索硬化症和Charcot-Marie-Tooth病2型有关。方法：回顾性分析4个家系中6例VCP患者的临床、血清学、电生理和肌肉病理学表现。结果：患者在40 - 53岁之间表现为肌无力，并以不对称肢带无力为主。1例患者在发作时出现远端无力，同时存在周围神经病变。另1例患者发生PDB，1例患者发生轻度认知缺陷，1例患者发生FTD。所有患者均有肌病和神经源性肌电图表现，其中2例神经源性改变占优势。边缘空泡少见，而神经源性变化在肌肉活检中突出。结论：VCP病是一种多方面的疾病，其中肌病和周围神经病变可以共存。电生理和病理性神经源性改变增加了运动神经元共存的可能性。肌肉神经，2015肌肉神经54：94-99，2016肌肉神经54：94-99，2016
Introduction: Valosin containing protein (VCP) mutations cause a rare disorder characterized by hereditary inclusion body myopathy, Paget disease of bone (PDB), and frontotemporal dementia (FTD) with variable penetrance. VCP mutations have also been linked to amyotrophic lateral sclerosis and Charcot-Marie-Tooth disease type 2. Methods: Review of clinical, serological, electrophysiological, and myopathological findings of 6 VCP-opathy patients from 4 unrelated families. Results: Patients manifested muscle weakness between ages 40 and 53 years and developed predominant asymmetric limb girdle weakness. One patient had distal weakness at onset and co-existing peripheral neuropathy. Another patient had PDB, 1 had mild cognitive deficits, and 1 had FTD. All patients had myopathic and neurogenic electromyographic findings with predominant neurogenic changes in 2. Rimmed vacuoles were infrequent, while neurogenic changes were prominent in muscle biopsies. Conclusions: VCP-opathy is a multifaceted disorder in which myopathy and peripheral neuropathy can coexist. The electrophysiological and pathological neurogenic changes raise the possibility of coexisting motor neuron involvement. Muscle Nerve, 2015 Muscle Nerve54: 94-99, 2016 Muscle Nerve54: 94-99, 2016