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Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy.病例报告：HTRA1基因杂合突变导致典型的伴有皮质下梗死和白质脑病的常染色体隐性遗传性脑动脉病
Front Genet. 2023 Sep 18;14:1235650. doi: 10.3389/fgene.2023.1235650. eCollection 2023.
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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.

本文引用的文献

1
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。
Mol Genet Genomic Med. 2020 Jun;8(6):e1111. doi: 10.1002/mgg3.1111. Epub 2020 Apr 2.
2
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.
3
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.
4
Distinct molecular mechanisms of HTRA1 mutants in manifesting heterozygotes with CARASIL.HTRA1突变体在伴有CARASIL的杂合子中表现出的独特分子机制。
Neurology. 2016 May 24;86(21):1964-74. doi: 10.1212/WNL.0000000000002694. Epub 2016 Apr 27.
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
Features of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy.伴有皮质下梗死和白质脑病的常染色体隐性遗传性脑动脉病的特征。
Stroke. 2014 Nov;45(11):3447-53. doi: 10.1161/STROKEAHA.114.004236. Epub 2014 Aug 12.
7
Mechanisms of sporadic cerebral small vessel disease: insights from neuroimaging.散发性脑小血管病的发病机制：神经影像学的启示。
Lancet Neurol. 2013 May;12(5):483-97. doi: 10.1016/S1474-4422(13)70060-7.
8
Genetics and molecular pathogenesis of sporadic and hereditary cerebral amyloid angiopathies.散发性和遗传性脑淀粉样血管病的遗传学与分子发病机制
Acta Neuropathol. 2009 Jul;118(1):115-30. doi: 10.1007/s00401-009-0501-8. Epub 2009 Feb 19.

Autosomal Dominant Cerebral Small Vessel Disease in Gene Mutation.

作者信息

Mahale Rohan R, Agarwal Aakash, Gautam Jyothi, Varghese Nibu, Kovoor Jennifer, Mailankody Pooja, Padmanabha Hansashree, Pavagada Mathuranath

机构信息

Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, Karnataka, India.

出版信息

Ann Indian Acad Neurol. 2021 Mar-Apr;24(2):297-299. doi: 10.4103/aian.AIAN_381_20. Epub 2020 Oct 7.

DOI:10.4103/aian.AIAN_381_20
PMID:34220097
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8232504/
Abstract
摘要