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大脑小血管疾病和中风的单一原因

Stéphanie Guey¹, Hugues Chabriat¹

¹Translational Centre for Neurovascular Disorders, Hôpital Lariboisière AP-HP, Paris, France; Paris-Cité University, Inserm U1141 NeuroDiderot, Paris, France.

Handbook of clinical neurology

|September 25, 2024

概括

大脑小血管疾病 (cSVDs) 导致25%的中风. 遗传检测对于罕见的单基因形式如CADASIL至关重要,但许多遗传原因仍未被发现.

科学领域:

神经学神经学
遗传学遗传学是一个
血管医学血管医学

背景情况:

大脑小血管疾病 (cSVDs) 对中风发生率和神经障碍有显著的贡献.
单源性疾病,特别是带有下皮层心脏病发作和白细胞大脑病变 (CADASIL) 的脑内自体主导动脉病,代表了cSVDs的一个子集.
临床表现和成像发现可以在不同的门德尔cSVD中重叠,需要全面的遗传评估.

研究的目的:

要突出大脑小血管疾病 (cSVDs) 的遗传基础.
强调在疑似单源性cSVD病例中分子查的重要性.
讨论当前的遗传检测策略,并确定关于cSVDs遗传病因学的知识差距.

主要方法:

关于cSVDs的门德尔式形式的当前文献的审查.
对涉及各种cSVD亚型的遗传因素的分析.
讨论诊断方法,包括面板向基因测序和外基因组测序.

主要成果:

十几种以上的基因与门德尔式cSVD有关,通常呈现为自体主导性疾病.
特定的基因与缺血性中风 (例如,CADASIL,HTRA1,PADMAL,CARASAL,LAMB1) 或脑内出血 (例如,COL4A1/COL4A2,遗传性脑粉样血管病变) 相关.
在怀疑遗传性脑血管疾病的患者中,不到15%的人群中发现了遗传变异,这表明需要进一步的基因发现.

结论:

早期发现具有特定临床和成像红旗的cSVD应促使分子查.
同时对已知的基因进行查是诊断孟德尔式cSVDs的当前标准.
遗传性脑血管疾病的很大一部分仍然无法解释,这强调了需要识别新的致病基因.

关键词:

大脑出血脑出血大脑小血管疾病大脑小血管疾病痴呆症是一种痴呆症.缺陷性中风是因为缺陷性中风孟德尔的疾病是孟德尔的疾病.

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