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首例针对摩洛哥CADASIL卒中患者pCys194Arg Notch 3突变进行的静脉溶栓治疗。

First intravenous thrombolysis for pCys194Arg Notch 3 mutation in a Moroccan CADASIL patient with stroke.

作者信息

Mnaili Mohamed Amine

机构信息

Neurology Department, Agadir Military Hospital, Agadir, Morocco.

University of Hassan II, Casablanca, Morocco.

出版信息

Radiol Case Rep. 2024 Apr 4;19(6):2549-2551. doi: 10.1016/j.radcr.2024.03.006. eCollection 2024 Jun.

DOI:10.1016/j.radcr.2024.03.006
PMID:38596173
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11001636/
Abstract

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is caused by mutations in the NOTCH3 gene. Clinical manifestations of CADASIL include lacunar infarcts, transient ischemic attacks, dementia, migraine, and psychiatric disorders. Cerebral MRI can show signal abnormalities in the basal ganglia and white matter, especially characteristic when located in the anterior part of the temporal lobe and external capsules. We report CADASIL patient treated with intravenous tenectelase for acute ischemic stroke, and we present a review of literature aimed to report effectiveness and safety of intravenous thrombolysis in CADASIL patients.

摘要

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）由NOTCH3基因突变引起。CADASIL的临床表现包括腔隙性梗死、短暂性脑缺血发作、痴呆、偏头痛和精神障碍。脑部磁共振成像（MRI）可显示基底节和白质的信号异常，尤其是位于颞叶前部和外囊时具有特征性。我们报告了1例接受静脉注射替奈普酶治疗急性缺血性卒中的CADASIL患者，并对旨在报告CADASIL患者静脉溶栓有效性和安全性的文献进行综述。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/88fa/11001636/b68853ce7a54/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/88fa/11001636/b68853ce7a54/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/88fa/11001636/b68853ce7a54/gr1.jpg

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Radiol Case Rep. 2024 Apr 4;19(6):2549-2551. doi: 10.1016/j.radcr.2024.03.006. eCollection 2024 Jun.
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本文引用的文献

1
Intracerebral hemorrhage in CADASIL.脑动脉淀粉样血管病相关脑出血。
Rev Neurol (Paris). 2021 Apr;177(4):422-430. doi: 10.1016/j.neurol.2020.10.009. Epub 2021 Jan 19.
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Cerebral Microbleeds and the Risk of Incident Ischemic Stroke in CADASIL (Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy).CADASIL 患者脑微出血与缺血性卒中事件风险的相关性研究（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）。
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Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects.
以大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）为例的小血管病：临床、诊断及管理方面的最新进展
BMC Med. 2017 Feb 24;15(1):41. doi: 10.1186/s12916-017-0778-8.
4
Archetypal mutations frequent in public exome: implications for CADASIL.公共外显子组中常见的原型突变：对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的意义
Ann Clin Transl Neurol. 2016 Sep 28;3(11):844-853. doi: 10.1002/acn3.344. eCollection 2016 Nov.
5
The Cerebral Autosomal-Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) Scale: a screening tool to select patients for NOTCH3 gene analysis.脑常染色体显性动脉病伴皮质下梗死和白质脑病（CADASIL）量表：一种筛选工具，用于选择 NOTCH3 基因分析的患者。
Stroke. 2012 Nov;43(11):2871-6. doi: 10.1161/STROKEAHA.112.665927. Epub 2012 Sep 20.
6
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The prevalence of cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) in the west of Scotland.苏格兰西部大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）的患病率
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