The unique neuroradiology of complex I deficiency due to NDUFA12L defect
The unique neuroradiology of complex I deficiency due to NDUFA12L defect
复制标题
DOI：
10.1016/j.ymgme.2007.11.013
复制
发表时间：
2008-05-01
影响因子：
3.8
通讯作者：
Elpeleg, Orly
中科院分区：
文献类型：
--
作者：
Barghuti, Flora;Elian, Khaled;Elpeleg, Orly
在两名婴儿晚期出现肌张力低下、眼球震颤和共济失调，并伴有脑病急性发作的患者中，我们发现了复合物 I 组装因子 NDUFA12L 的突变，导致 NDUFA12L 蛋白和复合物 I 活性显着降低。乳头丘脑束、黑质/内侧丘系、内侧纵束受累。延髓和小脑，以及皮质和皮质下白质相对较少的情况是独特的，与第一个也是唯一一个已知的 NDUFA12L 基因突变患者的发现相似。 (c) 2007 Elsevier Inc. 保留所有权利。
In two patients who presented at late infancy with hypotonia, nystagmus and ataxia, interspersed with acute episodes of encephalopathy, we identified a mutation in a complex I assembly factor, NDUFA12L, which resulted in a marked reduction of the NDUFA12L protein and of complex I activity. The involvement of the mamillothalamic tracts, substantia nigra/medial lemniscus, medial longitudinal fasciculus. the corpus medullare and the cerebellum, with relative sparing of the cortex and subcortical white matter was distinctive and resembled the findings in the first and only known patient with mutation in the NDUFA12L gene. (c) 2007 Elsevier Inc. All rights reserved.