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伴有大脑常染色体显性动脉病合并皮质下梗死及白质脑病（CADASIL）病例的周围神经病变：一例报告

Peripheral neuropathy in a case with CADASIL: a case report.

作者信息

Sakiyama Yusuke, Matsuura Eiji, Maki Yoshimitsu, Yoshimura Akiko, Ando Masahiro, Nomura Miwa, Shinohara Kazuya, Saigo Ryuji, Nakamura Tomonori, Hashiguchi Akihiro, Takashima Hiroshi

机构信息

Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, 8-35-1 Sakuragaoka, Kagoshima City, Kagoshima, 890-8520, Japan.

出版信息

BMC Neurol. 2018 Aug 31;18(1):134. doi: 10.1186/s12883-018-1131-3.

DOI:10.1186/s12883-018-1131-3
PMID:30170552
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6117928/
Abstract

BACKGROUND

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is characterized clinically by central nervous system dysfunctions. It is unclear whether CADASIL is involved in peripheral neuropathy.

CASE PRESENTATION

A 67-year-old Japanese man with stepwise progression of sensory and motor neuropathy was admitted to our hospital. Peripheral neuropathy of the extremities was detected through electrophysiological and pathological studies, and brain magnetic resonance imaging revealed bilateral periventricular ischemic and thalamic hemorrhagic lesions. We diagnosed CADASIL after detecting granular osmiophilic material in the walls of the endoneurial vessels morphologically and identifying a heterozygous NOTCH3 mutation p.Arg75Pro.

CONCLUSIONS

CADASIL is to be included in the work-up of not classified peripheral neuropathies.

摘要

背景

伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病（CADASIL）临床特征为中枢神经系统功能障碍。CADASIL是否累及周围神经病变尚不清楚。

病例报告

一名67岁日本男性因感觉和运动神经病变呈进行性加重入住我院。通过电生理和病理研究检测到四肢周围神经病变，脑磁共振成像显示双侧脑室周围缺血性病变和丘脑出血性病变。在形态学上检测到神经内膜血管壁中有嗜锇颗粒物质，并鉴定出杂合性NOTCH3突变p.Arg75Pro后，我们诊断为CADASIL。

结论

在未分类的周围神经病变检查中应考虑CADASIL。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c82c/6117928/c879415181c6/12883_2018_1131_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c82c/6117928/fd5cc023f8ff/12883_2018_1131_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c82c/6117928/c879415181c6/12883_2018_1131_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c82c/6117928/fd5cc023f8ff/12883_2018_1131_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c82c/6117928/c879415181c6/12883_2018_1131_Fig2_HTML.jpg

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本文引用的文献

1
Genotypic and phenotypic spectrum of CADASIL in Japan: the experience at a referral center in Kumamoto University from 1997 to 2014.日本 CADASIL 的基因型和表型谱：1997 年至 2014 年熊本大学转诊中心的经验。
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Two Japanese CADASIL families exhibiting Notch3 mutation R75P not involving cysteine residue.两个日本的伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病（CADASIL）家系，表现出Notch3基因R75P突变，该突变不涉及半胱氨酸残基。
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4
Notch3 ectodomain is a major component of granular osmiophilic material (GOM) in CADASIL.Notch3胞外结构域是伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病（CADASIL）中嗜锇颗粒物质（GOM）的主要成分。
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Characteristics of CADASIL in Korea: a novel cysteine-sparing Notch3 mutation.韩国CADASIL的特征：一种新型的半胱氨酸保留Notch3突变。
Neurology. 2006 May 23;66(10):1511-6. doi: 10.1212/01.wnl.0000216259.99811.50.
6
Peripheral nerve and skeletal muscle involvement in CADASIL.伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病中的周围神经和骨骼肌受累
Acta Neuropathol. 2005 Dec;110(6):587-99. doi: 10.1007/s00401-005-1082-9. Epub 2005 Nov 23.
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Peripheral neuropathy in CADASIL.
J Neurol. 2005 Oct;252(10):1206-9. doi: 10.1007/s00415-005-0837-5. Epub 2005 Apr 15.
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Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis.使用Notch3单克隆抗体进行皮肤活检免疫染色以诊断CADASIL。
Lancet. 2001 Dec 15;358(9298):2049-51. doi: 10.1016/S0140-6736(01)07142-2.
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The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients.Notch3受体的胞外结构域在CADASIL患者的脑血管系统中蓄积。
J Clin Invest. 2000 Mar;105(5):597-605. doi: 10.1172/JCI8047.