A Patient with Combined CADASIL and MTHFR Homozygosity.

IF 0.9 Q4 CLINICAL NEUROLOGY Case Reports in Neurological Medicine Pub Date : 2020-02-17 eCollection Date: 2020-01-01 DOI:10.1155/2020/4980847
Sidonie Ibrikji, Tarek El Halabi, Bassem Yamout
{"title":"A Patient with Combined CADASIL and MTHFR Homozygosity.","authors":"Sidonie Ibrikji,&nbsp;Tarek El Halabi,&nbsp;Bassem Yamout","doi":"10.1155/2020/4980847","DOIUrl":null,"url":null,"abstract":"<p><p>Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is an inherited disorder caused by a mutation in the NOTCH 3 gene, characterized by early onset of subcortical lacunar infarcts in the absence of vascular risk factors and cerebral microbleeds. Homozygosity for the factor Methylenetetrahydrofolate Reductase (MTHFR) is also associated with lacunar stroke risk and cerebral small-vessel disease regardless of the homocysteine level. The coexistence of MTHFR C677T homozygosity and NOTCH 3 mutation has never been reported in the literature previously, and that brings up the challenge of antithrombotic treatment in the presence of cerebral microbleeds.</p>","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2020 ","pages":"4980847"},"PeriodicalIF":0.9000,"publicationDate":"2020-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2020/4980847","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Case Reports in Neurological Medicine","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1155/2020/4980847","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2020/1/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 0

Abstract

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is an inherited disorder caused by a mutation in the NOTCH 3 gene, characterized by early onset of subcortical lacunar infarcts in the absence of vascular risk factors and cerebral microbleeds. Homozygosity for the factor Methylenetetrahydrofolate Reductase (MTHFR) is also associated with lacunar stroke risk and cerebral small-vessel disease regardless of the homocysteine level. The coexistence of MTHFR C677T homozygosity and NOTCH 3 mutation has never been reported in the literature previously, and that brings up the challenge of antithrombotic treatment in the presence of cerebral microbleeds.

Abstract Image

查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
合并CADASIL和MTHFR纯合子的患者1例。
脑常染色体显性动脉病变伴皮层下梗死和脑白质病(CADASIL)是一种由NOTCH 3基因突变引起的遗传性疾病,其特征是在没有血管危险因素和脑微出血的情况下,早期发生皮层下腔隙性梗死。无论同型半胱氨酸水平如何,亚甲基四氢叶酸还原酶(MTHFR)因子的纯合性也与腔隙性卒中风险和脑血管疾病相关。MTHFR C677T纯合性和NOTCH 3突变的共存在以前的文献中从未报道过,这给存在脑微出血的抗血栓治疗带来了挑战。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 去求助
来源期刊
自引率
0.00%
发文量
26
审稿时长
11 weeks
期刊最新文献
Disseminated Intracranial and Spinal Neurenteric Cysts: A Case Report and Literature Review. New-Onset Focal to Bilateral Tonic-Clonic Seizure Following COVID-19 Vaccination. Endotracheal Oxygen Insufflation Associated with Life-Threatening Barotrauma during Apnea Testing. Severe Neurotoxicity due to Atropa belladonna Poisoning: A Case Report and Literature Review. Rhabdomyolysis Induced by Levetiracetam: A Case Report in Kuwait.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1