Motor neuron diseases caused by a novel VRK1 variant – A genotype/phenotype study
Motor neuron diseases caused by a novel VRK1 variant – A genotype/phenotype study
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由新型 VRK1 变异引起的运动神经元疾病 – 基因型/表型研究
DOI：
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发表时间：
2019
影响因子：
5.3
通讯作者：
H. Tajsharghi
中科院分区：
文献类型：
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作者：
M. Sedghi;A. Moslemi;M. Olivé;M. Etemadifar;B. Ansari;J. Nasiri;L. Emrahi;H. Mianesaz;N. Laing;H. Tajsharghi
运动神经元疾病累及上下层神经元是一组罕见的神经肌肉疾病，在遗传和临床上是一组不同的疾病，在脊髓性肌萎缩症和肌萎缩侧索硬化症之间有重叠。由SMN1隐性突变引起的经典SMA是导致婴儿死亡的最常见的遗传原因之一。它的特点是脊髓前角细胞变性，导致进行性肌肉无力和萎缩。非SMN1相关的脊髓性肌肉萎缩是由编码牛痘相关蛋白1(VRK1)的VRK1等多个基因的变异引起的。VRK1变异体与运动神经元疾病分离，包括SMA表型或遗传性复杂运动和感觉轴索神经病(HMSN)，伴或不伴桥小脑发育不良或小头畸形。
Motor neuron disorders involving upper and lower neurons are a genetically and clinically heterogenous group of rare neuromuscular disorders with overlap among spinal muscular atrophies (SMAs) and amyotrophic lateral sclerosis (ALS). Classical SMA caused by recessive mutations in SMN1 is one of the most common genetic causes of mortality in infants. It is characterized by degeneration of anterior horn cells in the spinal cord, leading to progressive muscle weakness and atrophy. Non‐SMN1‐related spinal muscular atrophies are caused by variants in a number of genes, including VRK1, encoding the vaccinia‐related kinase 1 (VRK1). VRK1 variants have been segregated with motor neuron diseases including SMA phenotypes or hereditary complex motor and sensory axonal neuropathy (HMSN), with or without pontocerebellar hypoplasia or microcephaly.
影响因子：
13.8
作者：
Nagy, E;Maquat, LE
通讯作者：
Maquat, LE
影响因子：
4.8
作者：
Wee, Claribel D.;Kong, Lingling;Sumner, Charlotte J.
通讯作者：
Sumner, Charlotte J.