中文摘要：

目的：探讨中国家族性烟雾病患者的临床特征。方法对解放军第三〇七医院神经外科2009年3月至2012年6月期间收治的家族性烟雾病患者的临床资料进行回顾性分析。结果在研究期间收治的1108例烟雾病患者中，87例（7.8％）为家族性烟雾病患者，汉族及少数民族均有发病，男女性别比为1∶1.02，首发年龄为8个月～59岁，存在2个发病高峰年龄，分别为5~9岁和30~34岁，最常见的首发症状为脑缺血（74.7％）。1级亲属受累最多见（78/87，89.66％），其中同胞共患最多（38/78，48.72％），父系传递（21/78，26.92％）和母系传递（19/78，24.36％）的比例相近。结论中国家族性烟雾病存在2个发病高峰年龄，首发症状主要为脑缺血，主要见于1级亲属。

英文摘要：

Objective To investigate the clinical features of familial moyamoya disease in China. Methods The patients w ith familial moyamoya disease admitted to the department of Neurosurgery, the 307th Hospital of PLA from March 2009 to June 2012 w ere analyzed retrospectively. Results Of 1 108 patients w ith moyamoya disease admitted to the department of Neurosurgery, the 307th Hospital of PLA, 87 patients （7.8%） w ith familial moyamoya disease w ere identified. Familial moyamoya disease w as observed both in the Han nationality and the minority nationalities. The male to female ratio w as 1∶1.02. The age at first onset ranged from 8 months to 59 years. There w ere tw o peak ages -of-onset, 5-9 years and 30-34 years, respectively）. The most common initial symptom w as cerebral ischemia （74 .7%）. The first degree relatives w ere the most affected in patients w ith familial moyamoya disease （78/87, 89 .66%）, in w hich the siblings accounted for most of the disease （ 38/78, 48.72%）, and the proportions of mother-to-child inheritance （21/78, 26.92%） and father-to-child inheritance （ 19/78, 24.36%） w ere similar. Conclusions There are tw o peak ages-of-onset, cerebral ischemia is the most common initial symptom, the first degree relatives are the most affected in patients w ith familial moyamoya disease in China.