Case of familial amyotrophic lateral sclerosis showing gadolinium‐enhanced cranial nerves on magnetic resonance imaging associated with rapid progression of facial nerve palsy
Case of familial amyotrophic lateral sclerosis showing gadolinium‐enhanced cranial nerves on magnetic resonance imaging associated with rapid progression of facial nerve palsy
复制标题
磁共振成像显示钆增强颅神经与面神经麻痹快速进展相关的家族性肌萎缩侧索硬化症病例
DOI：
10.1111/ncn3.73
复制
发表时间：
2014
影响因子：
0.4
通讯作者：
N. Matsukawa
中科院分区：
文献类型：
--
作者：
M. Mizuno;Y. Ueki;K. Sakurai;K. Okita;F. Endo;K. Yamanaka;M. Morita;N. Matsukawa
在肌萎缩侧索硬化症(ALS)的早期发育阶段，磁共振成像(MRI)对脑神经的评估尚未建立。1例23岁家族性肌萎缩侧索硬化症家族性肌萎缩侧索硬化症患者出现周围性面神经麻痹，早期在MRI上可见明显的Gd强化。他的症状迅速恶化，大约在发病3个月后死亡。我们发现了铜锌超氧化物歧化酶基因(SOD-1)外显子1的错义突变，导致了Cys6Gly(C6G)氨基酸替换。根据SOD-1蛋白聚集导致的快速进展和神经毒性，Gd对面神经的增强可能是进展早期的快速沃勒变性和血脑屏障破坏所致。
The evaluation of cranial nerves in magnetic resonance imaging (MRI) at early developmental stage has not been established in amyotrophic lateral sclerosis (ALS). A 23‐year‐old man with familial ALS developed peripheral facial nerve palsy, and showed the striking gadolinium enhancement on MRI in those nerves at an early stage. His symptoms progressed rapidly and he died approximately 3 months after onset. We identified a missense mutation in exon 1 of the Cu/Zn superoxide dismutase gene (SOD‐1), resulting in a Cys6Gly (C6G) amino acid substitution. Based on the rapid progression and neurotoxicity resulting from SOD‐1 protein aggregation, the gadolinium enhancement of facial nerves might be caused by the rapid Wallerian degeneration and blood–brain barrier disruption at the early phase of progression.