Zhang Dao Pei, Yin Suo, Zhang Huai Liang, Li Dan, Song Bo, Liang Jia Xu
Department of Neurology, The First Affiliated Hospital of Henan University of Chinese Medicine, Zhengzhou, China.
Department of Image, The People's Hospital of Henan University of Chinese Medicine, Zhengzhou, China.
J Stroke. 2020 May;22(2):173-184. doi: 10.5853/jos.2019.02985. Epub 2020 May 31.
Intracranial arterial dolichoectasia (IADE), also known as dilatative arteriopathy of the brain vessels, refers to an increase in the length and diameter of at least one intracranial artery, and accounts for approximately 12% of all patients with stroke. However, the association of IADE with stroke is usually unclear. Cerebral small vessel disease (CSVD) is characterized by pathological changes in the small vessels. Clinically, patients with CSVD can be asymptomatic or present with stroke or cognitive decline. In the past 20 years, a series of studies have strongly promoted an understanding of the association between IADE and CSVD from clinical and pathological perspectives. It has been proposed that IADE and CSVD may be attributed to abnormal vascular remodeling driven by an abnormal matrix metalloproteinase/tissue inhibitor of metalloproteinase pathway. Also, IADErelated hemodynamic changes may result in initiation or progression of CSVD. Additionally, genetic factors are implicated in the pathogenesis of IADE and CSVD. Patients with Fabry's disease and late-onset Pompe's disease are prone to developing concomitant IADE and CSVD, and patients with collagen IV alpha 1 or 2 gene (COL4A1/COL4A2) and forkhead box C1 (FOXC1) variants present with IADE and CSVD. Race, strain, familial status, and vascular risk factors may be involved in the pathogenesis of IADE and CSVD. As well, experiments in mice have pointed to genetic strain as a predisposing factor for IADE and CSVD. However, there have been few direct genetic studies aimed towards determining the association between IADE and CSVD. In the future, more clinical and basic research studies are needed to elucidate the causal relationship between IADE and CSVD and the related molecular and genetic mechanisms.
颅内动脉迂曲扩张症（IADE），也称为脑血管扩张性动脉病，是指至少一条颅内动脉的长度和直径增加，约占所有中风患者的12%。然而，IADE与中风之间的关联通常并不明确。脑小血管病（CSVD）的特征是小血管的病理变化。临床上，CSVD患者可能无症状，或表现为中风或认知功能下降。在过去20年中，一系列研究有力地推动了从临床和病理角度对IADE与CSVD之间关联的理解。有人提出，IADE和CSVD可能归因于基质金属蛋白酶/金属蛋白酶组织抑制剂途径异常驱动的血管重塑异常。此外，与IADE相关的血流动力学变化可能导致CSVD的发生或进展。此外，遗传因素也与IADE和CSVD的发病机制有关。法布里病和晚发型庞贝病患者容易并发IADE和CSVD，而胶原蛋白IVα1或2基因（COL4A1/COL4A2）和叉头框C1（FOXC1）变异的患者会出现IADE和CSVD。种族、品系、家族状况和血管危险因素可能参与IADE和CSVD的发病机制。同样，小鼠实验指出遗传品系是IADE和CSVD的一个易感因素。然而，针对确定IADE与CSVD之间关联的直接遗传学研究很少。未来，需要更多的临床和基础研究来阐明IADE与CSVD之间的因果关系以及相关的分子和遗传机制。
