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A CADASIL-Like Case with a Novel Noncysteine Mutation of the NOTCH3 Gene and Granular Deposits in the Renal Arterioles.

作者信息

Nakamura Kuniyuki, Ago Tetsuro, Tsuchimoto Akihiro, Noda Nozomi, Nakamura Asako, Ninomiya Toshiharu, Uchiumi Takeshi, Tsuruya Kazuhiko, Kamouchi Masahiro, Ooboshi Hiroaki, Kitazono Takanari

机构信息

Department of Medicine and Clinical Science, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, Japan ; Department of Internal Medicine, Fukuoka Dental College Medical and Dental Hospital, Fukuoka 814-0193, Japan.

Department of Medicine and Clinical Science, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, Japan.

出版信息

Case Rep Neurol Med. 2015;2015:431461. doi: 10.1155/2015/431461. Epub 2015 Mar 9.

DOI:10.1155/2015/431461
PMID:25834748
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4365362/
Abstract

We herein report the finding of a 62-year-old male, who developed dysarthria and dysphagia, with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy- (CADASIL-) like cerebral lesions. He also suffered from slowly progressive renal failure with the findings of granular deposits similar to electron-dense granular osmiophilic material in the renal arterioles. We found a novel heterozygous missense mutation of the NOTCH3 gene, c.4039G>C in exon 24, resulting in a p.Gly1347Arg substitution in its extracellular domain. The noncysteine substitution may underlie the pathogenesis of white matter lesions in the brain and of the chronic renal failure in the present case.

摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/87d0/4365362/19160e3bc09f/CRINM2015-431461.003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/87d0/4365362/337cb53afbb1/CRINM2015-431461.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/87d0/4365362/3e0c9769f8d7/CRINM2015-431461.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/87d0/4365362/19160e3bc09f/CRINM2015-431461.003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/87d0/4365362/337cb53afbb1/CRINM2015-431461.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/87d0/4365362/3e0c9769f8d7/CRINM2015-431461.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/87d0/4365362/19160e3bc09f/CRINM2015-431461.003.jpg

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引用本文的文献

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CNS Neurosci Ther. 2021 Aug;27(8):930-940. doi: 10.1111/cns.13647. Epub 2021 May 4.
3
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects.

本文引用的文献

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PLoS One. 2012;7(10):e46688. doi: 10.1371/journal.pone.0046688. Epub 2012 Oct 8.
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Renal involvement in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): report of a case with a six-year follow-up.脑常染色体显性动脉病伴皮质下梗死和白质脑病（CADASIL）中的肾脏受累：一例六年后随访病例报告。
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Nephroangiosclerosis in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: is NOTCH3 mutation the common culprit?伴有皮质下梗死和白质脑病的脑常染色体显性动脉病中的肾血管硬化：NOTCH3 突变是常见病因吗？
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Renal involvement in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).脑常染色体显性遗传性动脉病伴皮质下梗死和白质脑病（CADASIL）中的肾脏受累情况。
Clin Nephrol. 2007 Mar;67(3):182-7. doi: 10.5414/cnp67182.
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Spectrum of mutations in biopsy-proven CADASIL: implications for diagnostic strategies.经活检证实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）的突变谱：对诊断策略的影响
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