Department of Neurosurgery, University of Tübingen, Tübingen, Germany.
J Hum Genet. 2010 Nov;55(11):711-6. doi: 10.1038/jhg.2010.103. Epub 2010 Aug 26.
Moyamoya disease (MMD) is a disease pattern consisting of bilateral stenosis of the intracranial internal carotid arteries (ICA) accompanied by a network of abnormal collateral vessels that bypass the stenosis. Once symptomatic, insufficient cerebral blood flow or rupture of the fragile collaterals may cause stroke or hemorrhage, resulting in severe neurological dysfunction or death. The etiology of MMD is still unknown, although few associations with other diseases and environmental factors have been described. Strong regional differences in epidemiological data, as well as known familial cases, turned the focus to genetics for the insight into the disease's pathogenesis. Thus far, several reports have suggested specific genetic loci and individual genes as predisposing to MMD, but none have demonstrated reproducible results in independent cohorts. Small sample sizes, as well as a likely multifactorial origin, seem to be the most challenging tasks in identifying the disease-causing mechanisms. Once identified, susceptibility genes may allow preventive screening and a possible development of novel therapeutic options.
烟雾病（MMD）是一种疾病模式，表现为双侧颈内动脉（ICA）颅内段狭窄，伴有异常的旁路吻合血管网络。一旦出现症状，脑血流不足或脆弱的吻合支破裂可能导致中风或出血，从而导致严重的神经功能障碍或死亡。MMD 的病因尚不清楚，尽管已经描述了与其他疾病和环境因素的一些关联。在流行病学数据中存在明显的区域差异，以及已知的家族病例，促使人们关注遗传学在疾病发病机制中的作用。迄今为止，已有几项报告提示特定的遗传位点和个体基因易患 MMD，但在独立队列中均未显示可重复的结果。样本量小，以及可能的多因素起源，似乎是确定致病机制中最具挑战性的任务。一旦确定了易感基因，就可能进行预防性筛查，并开发新的治疗选择。
