x连锁脊髓性肌肉萎缩症的临床和神经病理特征(SMAX2)与小说UBA1基因的突变有关。
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Dlamini N, Josifova DJ,潘恩SM, Wraige E,皮特M,墨菲AJ,国王,鼓,史密斯F, abb, Sewry C,雅克•TS Jungbluth H
x连锁脊髓性肌肉萎缩症的临床和神经病理特征(SMAX2)与小说UBA1基因的突变有关。
Neuromuscul Disord。2013; 23 (5): 391 - 8。doi: 10.1016 / j.nmd.2013.02.001。Epub 2013年3月18日。
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23518311 (在PubMed]
- 文摘
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Infantile-onset x连锁脊髓性肌萎缩(SMAX2)是一种罕见的致命疾病与突变UBA1(之前UBE1)基因,编码ubiquitin-activating酶1 ubiquitin-proteasome通路中的一个重要的角色。发表的病理报告是稀缺的。这里我们报告一个男性婴儿从出生与主要躯干的张力减退后减少胎儿的产前历史运动。他痛的脸,深刻的弱点,多个挛缩和无反射。肌酸激酶是适度提高。脑部MRI显示非特异性对称室周的白质的变化。运动和感觉的神经生理学揭示证据参与和肌肉活检显示标记提示急性去神经炎症和微妙的变化特性。UBA1测序揭示了一种新颖的半合子的错义突变(c.1670A > T;p.Glu557Val)。他在4个月死于进步的呼吸衰竭。 On post mortem assessment, in addition to severe ventral motor neuron pathology, there was widespread involvement of the sensory system, as well as developmental and degenerative cerebellar abnormalities. In contrast to typical SMN1-associated SMA, the thalamus was unaffected. These findings indicate that SMAX2 is more accurately classified as a motor sensory neuronopathy rather than a pure anterior horn cell disorder. Ubiquitin-proteasome pathway defects may not only cause neurodegeneration but also affect normal neuronal development.