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Hemorrhagic cerebral small vessel disease caused by a novel mutation in 3' UTR of collagen type IV alpha 1.

作者信息

Sakai Naoko, Uemura Masahiro, Kato Taisuke, Nozaki Hiroaki, Koyama Akihide, Ando Shouichirou, Kamei Hiroyuki, Kato Motohiro, Onodera Osamu

机构信息

Department of Neurology (N.S., M.U., S.A., O.O.), Brain Research Institute, Niigata University, Japan; Department of System Pathology for Neurological Disorders (T.K.), Brain Research Institute, Niigata University, Japan; Department of Medical Technology (H.N.), Graduate School of Health Sciences, Niigata University, Japan; Department of Legal Medicine (A.K.), Niigata University Graduate School of Medical and Dental Science, Japan; and Department of Neurology (H.K., M.K.), Fukuoka Mirai Hospital, Japan.

出版信息

Neurol Genet. 2019 Dec 26;6(1):e383. doi: 10.1212/NXG.0000000000000383. eCollection 2020 Feb.

DOI:10.1212/NXG.0000000000000383
PMID:32042912
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6940479/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/397d/6940479/36ffc1baa524/NXG.0000000000000383f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/397d/6940479/36ffc1baa524/NXG.0000000000000383f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/397d/6940479/36ffc1baa524/NXG.0000000000000383f1.jpg

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本文引用的文献

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Lancet Neurol. 2019 Jul;18(7):684-696. doi: 10.1016/S1474-4422(19)30079-1. Epub 2019 May 13.
2
Multi-infarct dementia of Swedish type is caused by a 3'UTR mutation of COL4A1.瑞典型多发梗死性痴呆由COL4A1基因3'非翻译区突变引起。
Brain. 2017 May 1;140(5):e29. doi: 10.1093/brain/awx062.
3
Disruption of a miR-29 binding site leading to COL4A1 upregulation causes pontine autosomal dominant microangiopathy with leukoencephalopathy.
'Raisin bread sign' feature of pontine autosomal dominant microangiopathy and leukoencephalopathy.
桥脑常染色体显性遗传性微血管病及白质脑病的“葡萄干面包征”特征
Brain Commun. 2023 Oct 22;5(6):fcad281. doi: 10.1093/braincomms/fcad281. eCollection 2023.
4
High frequency of AND mutations in Japanese patients with adult-onset cerebral small vessel disease.日本成年起病的脑小血管病患者中 AND 突变的高频发生。
J Neurol Neurosurg Psychiatry. 2023 Jan;94(1):74-81. doi: 10.1136/jnnp-2022-329917. Epub 2022 Oct 19.
5
A Novel Mutation in COL4A1 Gene in a Chinese Family with Pontine Autosomal Dominant Microangiopathy and Leukoencephalopathy.一个中国家族伴脑桥脑内在常染色体显性血管病和脑白质病的 COL4A1 基因突变
Transl Stroke Res. 2022 Apr;13(2):238-244. doi: 10.1007/s12975-021-00926-0. Epub 2021 Aug 20.
miR-29 结合位点的破坏导致 COL4A1 的上调引起伴有脑白质病的脑桥常染色体显性微血管病。
Ann Neurol. 2016 Nov;80(5):741-753. doi: 10.1002/ana.24782. Epub 2016 Oct 19.
4
Monogenic causes of stroke: now and the future.中风的单基因病因：现状与未来。
J Neurol. 2015 Dec;262(12):2601-16. doi: 10.1007/s00415-015-7794-4. Epub 2015 Jun 3.
5
Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency.新发现的 COL4A1 基因突变通过杂合性不足导致脑小血管病。
Hum Mol Genet. 2013 Jan 15;22(2):391-7. doi: 10.1093/hmg/dds436. Epub 2012 Oct 12.
6
Hereditary multi-infarct dementia of the Swedish type is a novel disorder different from NOTCH3 causing CADASIL.瑞典型遗传性多梗死性痴呆是一种不同于由NOTCH3基因变异导致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）的新型疾病。
Brain. 2007 Feb;130(Pt 2):357-67. doi: 10.1093/brain/awl360.
7
Hereditary multi-infarct dementia. Morphological and clinical studies of a new disease.
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