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伴有双侧小脑中脚受累的遗传性运动和感觉神经病VI型

Hereditary Motor and Sensory Neuropathy Type VI with Bilateral Middle Cerebellar Peduncle Involvement.

作者信息

Oh Jung-Hwan, Lee Han Sang, Cha Dong Min, Kang Sa-Yoon

机构信息

Department of Neurology, JeJu National University Hospital, JeJu 690-767, Korea.

Department of Neurology, Seoul National University Hospital, Seoul 110-744, Korea.

出版信息

Exp Neurobiol. 2014 Sep;23(3):266-9. doi: 10.5607/en.2014.23.3.266. Epub 2014 Sep 18.

DOI:10.5607/en.2014.23.3.266
PMID:25258575
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4174619/
Abstract

Charcot-Marie-Tooth disease (CMT) 2A with optic atrophy is referred to as hereditary motor and sensory neuropathy type VI (HMSN VI) and is caused by mitofusin 2 gene (MFN2) mutation. In patients with MFN2 related CMT, central nervous system is known to be also involved and cerebral white matter is mostly involved. We report a patient confirmed as HMSN VI who had isolated bilateral middle cerebellar peduncular lesions in brain MRI.

摘要

伴有视神经萎缩的夏科-马里-图思病（CMT）2A型被称为遗传性运动和感觉神经病VI型（HMSN VI），由线粒体融合蛋白2基因（MFN2）突变引起。在与MFN2相关的CMT患者中，已知中枢神经系统也会受累，且大脑白质受累最为常见。我们报告了一名经脑MRI确诊为HMSN VI的患者，其脑内双侧小脑中脚出现孤立性病变。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f0d6/4174619/f26185a35fb2/en-23-266-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f0d6/4174619/25fda05726c2/en-23-266-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f0d6/4174619/ac8f9ea57941/en-23-266-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f0d6/4174619/f26185a35fb2/en-23-266-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f0d6/4174619/25fda05726c2/en-23-266-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f0d6/4174619/ac8f9ea57941/en-23-266-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f0d6/4174619/f26185a35fb2/en-23-266-g003.jpg

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本文引用的文献

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2
Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin2 mutations.由线粒体融合蛋白2突变引起的轴索性夏科-马里-图斯神经病变中的脑受累情况。
J Neurol. 2008 Jul;255(7):1049-58. doi: 10.1007/s00415-008-0847-1. Epub 2008 Apr 21.
3
Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations.由线粒体融合蛋白2突变导致的夏科-马里-图斯病发病机制中轴突线粒体运输的改变
Charcot-Marie-Tooth 型视神经病变的特征。
J Neurol. 2017 Dec;264(12):2431-2435. doi: 10.1007/s00415-017-8645-2. Epub 2017 Oct 23.
J Neurosci. 2007 Jan 10;27(2):422-30. doi: 10.1523/JNEUROSCI.4798-06.2007.
4
Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations.伴有线粒体融合蛋白2（MFN2）突变的早发型重症和晚发型轻症夏科-马里-图斯病
Brain. 2006 Aug;129(Pt 8):2103-18. doi: 10.1093/brain/awl174. Epub 2006 Jul 10.
5
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2.视神经萎缩伴轴索性神经病由线粒体融合蛋白2突变引起。
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6
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