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A new case of autosomal dominant small vessel disease carrying a novel heterozygous mutation in HTRA1 gene: 2-year follow-up.

作者信息

Pati A R, Battisti C, Taglia I, Galluzzi P, Bianchi M, Federico A

机构信息

Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.

出版信息

Neurol Sci. 2018 Aug;39(8):1479-1481. doi: 10.1007/s10072-018-3294-5. Epub 2018 Mar 15.

DOI:10.1007/s10072-018-3294-5
PMID:29546604
Abstract
摘要

相似文献

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A new case of autosomal dominant small vessel disease carrying a novel heterozygous mutation in HTRA1 gene: 2-year follow-up.
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Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL).脑常染色体隐性遗传性动脉病伴皮质下梗死和白质脑病（CARASIL）。
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3
Novel mutations in HTRA1-related cerebral small vessel disease and comparison with CADASIL.HTRA1 相关脑小血管病的新突变与 CADASIL 的比较。
Ann Clin Transl Neurol. 2022 Oct;9(10):1586-1595. doi: 10.1002/acn3.51654. Epub 2022 Sep 1.
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A novel heterozygous HTRA1 mutation in an Asian family with CADASIL-like disease.一个新的 HTRA1 杂合突变与 CADASIL 样疾病的一个亚洲家族有关。
J Clin Lab Anal. 2022 Feb;36(2):e24174. doi: 10.1002/jcla.24174. Epub 2021 Dec 23.
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Heterozygous HTRA1 missense mutation in CADASIL-like family disease.类脑动脉血管病伴皮质下梗死及白质脑病（CADASIL）样家族性疾病中的杂合型HTRA1错义突变
Braz J Med Biol Res. 2018 Mar 15;51(5):e6632. doi: 10.1590/1414-431X20176632.
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One Disease with two Faces: Semidominant Inheritance of a Novel HTRA1 Mutation in a Consanguineous Family.一种疾病两种表现：一个近亲家系中新型 HTRA1 突变的半显性遗传。
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CADASIL brain vessels show a HTRA1 loss-of-function profile.CADASIL 脑血管呈现出 HTRA1 功能丧失的特征。
Acta Neuropathol. 2018 Jul;136(1):111-125. doi: 10.1007/s00401-018-1853-8. Epub 2018 May 3.
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J Stroke Cerebrovasc Dis. 2019 Nov;28(11):104354. doi: 10.1016/j.jstrokecerebrovasdis.2019.104354. Epub 2019 Sep 5.

引用本文的文献

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Identified novel heterozygous pathogenic variants in Chinese patients with -associated dominant cerebral small vessel disease.在中国伴有显性遗传性脑小血管病的患者中鉴定出新型杂合致病性变异。
Front Genet. 2022 Aug 10;13:909131. doi: 10.3389/fgene.2022.909131. eCollection 2022.
2
Report of two pedigrees with heterozygous HTRA1 variants-related cerebral small vessel disease and literature review.两例携带杂合 HTRA1 变异的脑小血管病家系报告及文献复习。
Mol Genet Genomic Med. 2022 Oct;10(10):e2032. doi: 10.1002/mgg3.2032. Epub 2022 Aug 10.
3
Systematic Review of Cerebral Phenotypes Associated With Monogenic Cerebral Small-Vessel Disease.

本文引用的文献

1
Update on cerebral small vessel disease: a dynamic whole-brain disease.脑小血管病更新：一种全脑动态疾病。
Stroke Vasc Neurol. 2016 Oct 25;1(3):83-92. doi: 10.1136/svn-2016-000035. eCollection 2016 Sep.
2
Heterozygous mutations of HTRA1 gene in patients with familial cerebral small vessel disease.家族性脑小血管病患者中HTRA1基因的杂合突变
CNS Neurosci Ther. 2017 Sep;23(9):759-765. doi: 10.1111/cns.12722. Epub 2017 Aug 6.
3
The first Greek case of heterozygous cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy: An atypical clinico-radiological presentation.
单基因脑小血管病相关脑表型的系统评价
J Am Heart Assoc. 2022 Jun 21;11(12):e025629. doi: 10.1161/JAHA.121.025629. Epub 2022 Jun 14.
4
-Related Cerebral Small Vessel Disease: A Review of the Literature.- 相关脑小血管病：文献综述
Front Neurol. 2020 Jul 3;11:545. doi: 10.3389/fneur.2020.00545. eCollection 2020.
5
Clinical application of next-generation sequencing to the practice of neurology.下一代测序在神经病学实践中的临床应用。
Lancet Neurol. 2019 May;18(5):492-503. doi: 10.1016/S1474-4422(19)30033-X.
希腊首例伴有皮质下梗死和白质脑病的杂合性脑常染色体隐性动脉病：一种非典型的临床放射学表现。
Neuroradiol J. 2017 Dec;30(6):583-585. doi: 10.1177/1971400917700168. Epub 2017 Apr 12.
4
Histopathologic Analysis of Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CARASIL): A Report of a New Genetically Confirmed Case and Comparison to 2 Previous Cases.伴有皮质下梗死和白质脑病的脑常染色体隐性动脉病（CARASIL）的组织病理学分析：1例新的基因确诊病例报告及与2例既往病例的比较
J Neuropathol Exp Neurol. 2016 Nov 1;75(11):1020-1030. doi: 10.1093/jnen/nlw078.
5
Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease.杂合 HTRA1 突变与常染色体显性遗传性脑小血管病相关。
Brain. 2015 Aug;138(Pt 8):2347-58. doi: 10.1093/brain/awv155. Epub 2015 Jun 10.
6
Cerebral small vessel disease-related protease HtrA1 processes latent TGF-β binding protein 1 and facilitates TGF-β signaling.与脑小血管病相关的蛋白酶HtrA1可加工潜伏性转化生长因子-β结合蛋白1并促进转化生长因子-β信号传导。
Proc Natl Acad Sci U S A. 2014 Nov 18;111(46):16496-501. doi: 10.1073/pnas.1418087111. Epub 2014 Nov 4.
7
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): from discovery to gene identification.脑常染色体隐性遗传性动脉病伴皮质下梗死和白质脑病（CARASIL）：从发现到基因鉴定。
J Stroke Cerebrovasc Dis. 2011 Mar-Apr;20(2):85-93. doi: 10.1016/j.jstrokecerebrovasdis.2010.11.008. Epub 2011 Jan 7.