Abstract:

Objective To analyze the clinical characteristics of Chinese CADASIL patients based on screening scale. Methods CADASIL patients diagnosed by Notch3 gene test were retrospectively collected in Shenzhen People’s Hospital. All the patients (group A) was evaluated using CADASIL scale and the sensitivity of the scale was tested. We searched Chinese CADASIL related literature in Chinese and foreign databases, and summarized the frequency of clinical characteristics in Chinese patients from literature data (group B). The clinical characteristics of CADASIL patients in group A, group B and group C (original data used for making screening scale) were compared. Results 16 patients was included in group A, and the sensitivity of the scale in 16 cases was 68.8% (11/16). The incidence of clinical characteristics in group A as follows: no migraine with aura, 5 cases (31.3%) with migraine, 5 cases (31.3%) with psychiatric disturbances, 7 cases (43.8%) with leukoencephalopathy involving temporal pole, 7 cases (43.8%) with family history in 1 generation and 4 cases (25%) in 2 generation; the incidence of TIA, stroke, recognitive decline and dementia

were more than half. There were statistically difference in the incidence of migraine, migraine with aura, cognition decline/dementia, leukoencephalopathy, leukoencephalopathy involving temporal pole and family history among the three groups (all P <0.05). Comparison between any two groups showed that the incidence of migraine with aura and family history in group A and group B were lower than that in group C (all P <0.005);the incidence of migraine, cognition decline/dementia, leukoencephalopathy and leukoencephalopathy involving temporal pole in group B was lower than that in group C (all P <0.05). Conclusions The sensitivity of CADASIL screening scale is not high enough for Chinese patients. The common clinical characteristics in the data used for making the screening scale such as migraine with or without aura, leukoencephalopathy involving temporal pole and positive family history were lower in Chinese CADASIL patients yet; the common symptoms in Chinese CADASIL patients were TIA or stroke.

Key words: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; Screening scale; Clinical characteristic

摘要：

目的 基于筛查量表，分析中国常染色体显性遗传性脑动脉病伴皮质下梗死和白质脑病（cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy，CADASIL）患者的临床 特征。 方法 回顾性纳入2012年1月-2019年11月在深圳市人民医院经NOTCH3基因检测确诊的CADASIL患 者，行CADASIL筛查量表评分测试其敏感度。检索国内外数据库查找中国CADASIL相关文献，汇总中 国患者基于筛查量表各项目的出现频率。将本研究数据（A组）、中国患者文献复习数据（B组）、制订 CADASIL筛查量表时使用的原始数据（C组）三组的数据进行比较，总结中国患者的临床特征。 结果 本研究16例CADASIL患者中，筛查量表的敏感性为68.8%（11/16）。其中出现频率较低的项目 分别为伴先兆的偏头痛（0/16，0%）、偏头痛（5/16，31.3%）、情绪精神障碍（5/16，31.3%）、脑白质 病变累及颞极（7/16，43.8%）、阳性家族史（其中1代家族史阳性7/16，43.8%；2代家族史阳性4/16， 25%）；TIA或卒中、认知功能下降/痴呆出现率均在一半以上。A、B、C三组进行比较，偏头痛、伴先兆 的偏头痛、认知功能下降/痴呆、脑白质病变、脑白质病变累及颞极、阳性家族史在三组间的出现频 率均有统计学差异（均P＜0.05）。经两两比较，在伴先兆的偏头痛和阳性家族史两个项目中，A组、B 组的出现率均明显低于C组（均P＜0.001）；偏头痛、认知功能下降/痴呆、脑白质病变、脑白质病变累 及颞极这几项，B组的出现率均低于C组（均P＜0.05）。 结论 CADASIL筛查量表应用于中国患者的敏感度不高。制定CADASIL筛查量表时使用的原始数据常 见的临床症状伴或不伴先兆的偏头痛、脑白质病变累及颞极、可采集到阳性家族史，在中国患者却很 低；中国CADASIL患者最常见的临床特征是TIA或卒中。

关键词: 常染色体显性遗传性脑动脉病伴皮质下梗死和白质脑病; 筛查量表; 临床特征