遗传性卒中综合征
Genetic stroke syndromes.
作者信息
Barrett Kevin M, Meschia James F
出版信息
Continuum (Minneap Minn). 2014 Apr;20(2 Cerebrovascular Disease):399-411. doi: 10.1212/01.CON.0000446109.20539.68.
Abstract
PURPOSE OF REVIEW
This review describes the clinical and radiographic features, genetic determinants, and treatment options for the most well-characterized monogenic disorders associated with stroke.
RECENT FINDINGS
Stroke is a phenotype of many clinically important inherited disorders. Recognition of the clinical manifestations of genetic disorders associated with stroke is important for accurate diagnosis and prognosis. Genetic studies have led to the discovery of specific mutations associated with the clinical phenotypes of many inherited stroke syndromes.
SUMMARY
Several inherited causes of stroke have established and effective therapies, further underscoring the importance of timely diagnosis.
摘要
综述目的
本综述描述了与中风相关的特征最明确的单基因疾病的临床和影像学特征、遗传决定因素及治疗选择。
最新发现
中风是许多临床上重要的遗传性疾病的一种表型。认识与中风相关的遗传疾病的临床表现对于准确诊断和预后至关重要。遗传学研究已导致发现了与许多遗传性中风综合征临床表型相关的特定突变。
总结
几种遗传性中风病因已有既定且有效的治疗方法，这进一步凸显了及时诊断的重要性。
相似文献
1
Genetic stroke syndromes.遗传性卒中综合征
Continuum (Minneap Minn). 2014 Apr;20(2 Cerebrovascular Disease):399-411. doi: 10.1212/01.CON.0000446109.20539.68.
2
A genetic approach to ischemic stroke therapy.
Cerebrovasc Dis. 2004;17 Suppl 1:63-9. doi: 10.1159/000074797.
3
Clinical neurogenetics: stroke.临床神经遗传学：中风。
Neurol Clin. 2013 Nov;31(4):915-28. doi: 10.1016/j.ncl.2013.05.001. Epub 2013 Jul 17.
4
A review of genetic causes of ischemic and hemorrhagic stroke.缺血性和出血性中风的遗传病因综述。
J Neurol Sci. 2007 Jun 15;257(1-2):273-9. doi: 10.1016/j.jns.2007.01.037. Epub 2007 Feb 27.
5
Mechanisms and treatment of ischaemic stroke--insights from genetic associations.缺血性脑卒中的发病机制与治疗——遗传关联的启示。
Nat Rev Neurol. 2014 Dec;10(12):723-30. doi: 10.1038/nrneurol.2014.196. Epub 2014 Oct 28.
6
[Study on relationship between constitution and syndrome of MMP-9, IL-6 and MTHFR gene in patients with ischemic stroke].[缺血性脑卒中患者体质与基质金属蛋白酶-9、白细胞介素-6及亚甲基四氢叶酸还原酶基因证型关系的研究]
Zhongguo Zhong Yao Za Zhi. 2017 Sep;42(18):3602-3612. doi: 10.19540/j.cnki.cjcmm.2017.0139.
7
Imaging techniques for acute ischemic stroke: nice gadgets or essential tools for effective treatment?
Neuroradiology. 2010 Mar;52(3):169-71. doi: 10.1007/s00234-009-0638-0. Epub 2009 Dec 17.
8
Ischaemic stroke associated with ovarian hyperstimulation syndrome and factor V Leiden mutation.与卵巢过度刺激综合征及凝血因子V莱顿突变相关的缺血性卒中
Aust N Z J Obstet Gynaecol. 2004 Jun;44(3):264-6. doi: 10.1111/j.1479-828X.2004.00188.x.
9
A -174G/C polymorphism of the interleukin-6 gene in patients with lacunar infarction.腔隙性脑梗死患者白细胞介素-6基因A-174G/C多态性
Neurosci Lett. 2002 May 10;324(1):29-32. doi: 10.1016/s0304-3940(02)00169-6.
10
Challenges and Opportunities of Endovascular Stroke Therapy.血管内卒中治疗的挑战与机遇。
Ann Neurol. 2016 Jan;79(1):11-7. doi: 10.1002/ana.24528. Epub 2015 Dec 15.
引用本文的文献
1
Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis.临床外显子组测序揭示了卒中婴儿中孟德尔疾病的高频发生：一项回顾性分析。
Am J Med Genet A. 2022 Nov;188(11):3184-3190. doi: 10.1002/ajmg.a.62967. Epub 2022 Sep 6.
2
Genetic Insights into Cerebrovascular Disorders: A Comprehensive Review.脑血管疾病的遗传学见解：全面综述
J Vasc Interv Neurol. 2017 Oct;9(5):21-32.
3
Hemiplegia and headache: a review of hemiplegia in headache disorders.偏瘫与头痛：头痛性疾病中的偏瘫综述
Curr Pain Headache Rep. 2015;19(2):471. doi: 10.1007/s11916-014-0471-y.
本文引用的文献
1
MRI of the brain in childhood-onset mitochondrial disorders with central nervous system involvement.儿童起病伴中枢神经系统受累的线粒体疾病的脑部 MRI 表现
Mitochondrion. 2013 Jul;13(4):364-71. doi: 10.1016/j.mito.2013.04.008. Epub 2013 Apr 24.
2
Cost-effectiveness of enzyme replacement therapy for Fabry disease.法布瑞病酶替代疗法的成本效益分析。
Orphanet J Rare Dis. 2013 Feb 19;8:29. doi: 10.1186/1750-1172-8-29.
3
Shared associations of nonatherosclerotic, large-vessel, cerebrovascular arteriopathies: considering intracranial aneurysms, cervical artery dissection, moyamoya disease and fibromuscular dysplasia.非动脉粥样硬化性、大动脉、脑血管动脉病的共同关联：考虑颅内动脉瘤、颈内动脉夹层、烟雾病和纤维肌发育不良。
Curr Opin Neurol. 2013 Feb;26(1):13-28. doi: 10.1097/WCO.0b013e32835c607f.
4
Stroke With Transfusions Changing to Hydroxyurea (SWiTCH).卒中患者输血转换为羟基脲治疗（SWiTCH）研究。
Blood. 2012 Apr 26;119(17):3925-32. doi: 10.1182/blood-2011-11-392340. Epub 2012 Feb 7.
5
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy syndrome mutations increase susceptibility to spreading depression.脑常染色体显性动脉病伴皮质下梗死和白质脑病综合征突变增加了扩散性抑制的易感性。
Ann Neurol. 2011 Feb;69(2):413-8. doi: 10.1002/ana.22281.
6
Cerebral small-vessel disease protein HTRA1 controls the amount of TGF-β1 via cleavage of proTGF-β1.脑小血管病蛋白 HTRA1 通过切割 proTGF-β1 来控制 TGF-β1 的量。
Hum Mol Genet. 2011 May 1;20(9):1800-10. doi: 10.1093/hmg/ddr063. Epub 2011 Feb 14.
7
A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.一项全基因组关联研究确定 RNF213 为首个烟雾病基因。
J Hum Genet. 2011 Jan;56(1):34-40. doi: 10.1038/jhg.2010.132. Epub 2010 Nov 4.
8
Evolution of a tumor-like lesion in cerebroretinal vasculopathy and TREX1 mutation.脑视网膜血管病变中肿瘤样病变的演变与TREX1突变
Neurology. 2010 Sep 28;75(13):1211-3. doi: 10.1212/WNL.0b013e3181f4d7ac.
9
Indirect revascularization techniques for treating moyamoya disease.间接血运重建技术治疗烟雾病。
Neurosurg Clin N Am. 2010 Jul;21(3):553-63. doi: 10.1016/j.nec.2010.03.008.
10
Effects of intravitreal bevacizumab treatment on proliferative retinopathy in a patient with cerebroretinal vasculopathy.玻璃体内注射贝伐单抗治疗对一名脑视网膜血管病变患者增殖性视网膜病变的影响。
J Neurol. 2010 Jul;257(7):1213-4. doi: 10.1007/s00415-010-5500-0. Epub 2010 Feb 24.
Zotero 插件