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Unusual case of cerebral small vessel disease with a heterozygous nonsense mutation in HTRA1.

作者信息

Tateoka Toru, Onda Hideaki, Hirota Kengo, Kasuya Hidetoshi, Shinohara Toyoaki, Kinouchi Hiroyuki, Akagawa Hiroyuki

机构信息

Division of Neurosurgery, Kofu Neurosurgical Hospital, Kofu, Yamanashi, Japan; Department of Neurosurgery, Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi, Chuo, Yamanashi, Japan.

Division of Neurosurgery, Kofu Neurosurgical Hospital, Kofu, Yamanashi, Japan; Department of Neurosurgery, Medical Center East, Tokyo Women's Medical University, Tokyo, Japan.

出版信息

J Neurol Sci. 2016 Mar 15;362:144-6. doi: 10.1016/j.jns.2016.01.037. Epub 2016 Jan 21.

DOI:10.1016/j.jns.2016.01.037
PMID:26944136
Abstract
摘要

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引用本文的文献

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Heterozygous Pathogenic and Likely Pathogenic Symptomatic Variant Carriers in Cerebral Small Vessel Disease.脑小血管病中的杂合致病性和可能致病性症状性变异携带者。
Int J Gen Med. 2023 Mar 29;16:1149-1162. doi: 10.2147/IJGM.S404813. eCollection 2023.
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.
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-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.
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A novel heterozygous HTRA1 mutation is associated with autosomal dominant hereditary cerebral small vessel disease.一种新的杂合 HTRA1 突变与常染色体显性遗传性脑小血管病有关。
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How common are single gene mutations as a cause for lacunar stroke? A targeted gene panel study.单基因突变作为腔隙性卒中的病因有多常见？一项靶向基因panel 研究。
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