Genetic stroke syndromes.
Genetic stroke syndromes.
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DOI：
10.1212/01.con.0000446109.20539.68
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发表时间：
2014-04-01
期刊：
影响因子：
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通讯作者：
Meschia, James F
中科院分区：
文献类型：
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作者：
Barrett, Kevin M;Meschia, James F
审查目的：这篇综述介绍了临床和影像学特征，遗传决定因素，和治疗方案的最好的特点与stroke.Recent Findings相关的单基因疾病：中风是许多临床上重要的遗传性疾病的表型。识别与卒中相关的遗传性疾病的临床表现对于准确诊断和预后非常重要。遗传学研究已经发现了与许多遗传性中风syndrome.SUMMARY的临床表型相关的特定突变：中风的几个遗传原因已经建立和有效的治疗方法，进一步强调了及时诊断的重要性。
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.