Shindo Akihiro, Tabei Ken-Ichi, Taniguchi Akira, Nozaki Hiroaki, Onodera Osamu, Ueda Akihiko, Ando Yukio, Urabe Takao, Kimura Kazumi, Kitagawa Kazuo, Hanyu Haruo, Hirano Teruyuki, Wakita Hideaki, Fukuyama Hidenao, Kagimura Tatsuo, Miyamoto Yoshihiro, Takegami Misa, Saito Satoshi, Watanabe-Hosomi Akiko, Mizuta Ikuko, Ihara Masafumi, Mizuno Toshiki, Tomimoto Hidekazu
Department of Neurology, Mie University Graduate School of Medicine, Tsu, Japan.
Department of Dementia Prevention and Therapeutics, Mie University Graduate School of Medicine, Tsu, Japan.
Front Aging Neurosci. 2020 Jul 14;12:216. doi: 10.3389/fnagi.2020.00216. eCollection 2020.
Clinical characteristics of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) include migraine, recurrent stroke, white matter lesions, and vascular dementia. CADASIL is one of the most common hereditary cerebral small vessel diseases. Clinical presentation of CADASIL varies and a racial gap may exist between the Asian and Caucasian populations. This is the first nationwide epidemiological survey which aimed to elucidate the clinical features of CADASIL in Japan. Moreover, the registration database of CADASIL was constructed.
Subjects included CADASIL patients who visited the hospitals (totally 1,448 hospitals) certified by the Japanese Society of Neurology and/or Japan Stroke Society in 2016. This study consisted of a two-step survey; patients with CADASIL were identified genetically by the first questionnaire, and their clinical features were assessed by the second questionnaire. Selected 6 hospitals registered the data of all CADASIL patients using a Research Electronic Data Capture (REDCap) system for the second questionnaire.
Based on the criteria, 88 patients (50 male and 38 female) with CADASIL were enrolled. The mean age of symptom onset was 49.5 years. Sixteen (18.2%) patients had an elderly onset (>60 years). Thirteen patients (13.6%) had history of migraine with aura and 33 patients (37.5%) had vascular risk factor(s). From among the 86 patients who were examined using magnetic resonance imaging, abnormal deep white matter lesions were detected in 85 patients (98.8%), WMLs extending to anterior temporal pole in 73 patients (84.9%), and cerebral microbleeds in 41 patients (47.7%). Anti-platelet therapy was received by 65 patients (73.9%). Thirty-eight patients (43.2%) underwent treatment with lomerizine hydrochloride. Thirty-four different mutations of were found in exons 2, 3, 4, 5, 6, 8, 11, 14, and 19. Most of the mutations existed in exon 4 ( = 44, 60.3%). The prevalence rate of CADASIL was 1.20 to 3.58 per 100,000 adults in Japan.
This questionnaire-based study revealed clinical features and treatment status in Japanese CADASIL patient, although it may not be an exhaustive search. We have constructed the REDCap database for these CADASIL patients.
伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病（CADASIL）的临床特征包括偏头痛、复发性中风、白质病变和血管性痴呆。CADASIL是最常见的遗传性脑小血管疾病之一。CADASIL的临床表现各不相同，亚洲人群和白种人群之间可能存在种族差异。这是首次旨在阐明日本CADASIL临床特征的全国性流行病学调查。此外，还构建了CADASIL注册数据库。
研究对象包括2016年就诊于日本神经学会和/或日本卒中学会认证医院（共1448家医院）的CADASIL患者。本研究包括两步调查；通过第一份问卷对CADASIL患者进行基因鉴定，并通过第二份问卷评估其临床特征。选定的6家医院使用研究电子数据采集（REDCap）系统记录所有CADASIL患者第二份问卷的数据。
根据标准，纳入88例CADASIL患者（男性50例，女性38例）。症状发作的平均年龄为49.5岁。16例（18.2%）患者为老年发病（>60岁）。13例（13.6%）患者有先兆偏头痛病史，33例（37.5%）患者有血管危险因素。在86例接受磁共振成像检查的患者中，85例（98.8%）检测到深部白质病变异常，73例（84.9%）白质病变延伸至颞前极，41例（47.7%）有脑微出血。65例（73.9%）患者接受了抗血小板治疗。38例（43.2%）患者接受了盐酸洛美利嗪治疗。在第2、3、4、5、6、8、11、14和19外显子中发现了34种不同的突变。大多数突变存在于第4外显子（n = 44，60.3%）。日本CADASIL的患病率为每10万成年人1.20至3.58例。
这项基于问卷的研究揭示了日本CADASIL患者的临床特征和治疗状况，尽管可能并非详尽无遗。我们为这些CADASIL患者构建了REDCap数据库。
