一名患有桥脑常染色体显性遗传性微血管病和白质脑病的患者出现多处微出血。 - Suppr

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超能文献

Multiple microbleeds in a patient with pontine autosomal dominant microangiopathy and leukoencephalopathy.

作者信息

Ling Chen, Guo Yu, Peng Qing

机构信息

Department of Neurology, Peking University First Hospital, Beijing, China.

Beijing Key Laboratory of Neurovascular Disease Discovery, Beijing, China.

出版信息

Neurol Sci. 2024 Jul;45(7):3559-3560. doi: 10.1007/s10072-024-07491-y. Epub 2024 Mar 30.

DOI:10.1007/s10072-024-07491-y

PMID:38554198

Abstract

摘要

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引用本文的文献

A patient with pontine autosomal dominant microangiopathy and leukoencephalopathy caused by a de novo 3' untranslated region mutation of COL4A1 gene: case report and literature review.一例因COL4A1基因3'非翻译区新发突变导致的桥脑常染色体显性遗传性微血管病和白质脑病患者：病例报告及文献复习

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本文引用的文献

Hemorrhagic cerebral small vessel disease caused by a novel mutation in 3' UTR of collagen type IV alpha 1.由IV型胶原蛋白α1的3'非翻译区新突变引起的出血性脑小血管疾病。

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

Disruption of a miR-29 binding site leading to COL4A1 upregulation causes pontine autosomal dominant microangiopathy with leukoencephalopathy.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.

MRI features of pontine autosomal dominant microangiopathy and leukoencephalopathy (PADMAL).脑桥常染色体显性遗传性脑动脉病和脑白质病（CADASIL）的 MRI 特征。

J Neuroimaging. 2010 Apr;20(2):134-40. doi: 10.1111/j.1552-6569.2008.00336.x. Epub 2009 Jan 29.

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