Neurology Department, Hualien Tzu Chi Hospital/ Tzu Chi University, Taiwan.
Acta Neurol Taiwan. 2021 Dec 15;30(4):162-170.
CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is the most common cause of heritable vascular dementia. Recognizing the disease before the full-blown clinical features is challenging, so our case series high light clinical characteristics, screening tools and diagnostic process of the patients with CADASIL.
Our case series reports neurocognitive features, neuroimaging, and exemplary pedigrees of seven patients with genetically confirmed CADASIL, in which six patients presented with dementia and the other one presented with migraine.
Our report is the single-center experience of our hospital in eastern Taiwan, where access to medical care and genetic test is relatively limited compared to other parts of Taiwan. We had also compared the utility of Davous' CADASIL criteria and the CADASIL scale, and both can be used as sensitive screening tools before genetic tests, especially in the area with limited medical access.
CADASIL（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）是遗传性血管性痴呆的最常见原因。在出现全面临床特征之前识别该疾病具有挑战性，因此我们的病例系列强调了 CADASIL 患者的临床特征、筛查工具和诊断过程。
我们的病例系列报告了 7 名经基因证实的 CADASIL 患者的神经认知特征、神经影像学和典型家系，其中 6 名患者表现为痴呆，另一名患者表现为偏头痛。
我们的报告是我院在台湾东部的单中心经验，与台湾其他地区相比，这里的医疗保健和基因检测的可及性相对有限。我们还比较了 Davous 的 CADASIL 标准和 CADASIL 量表的效用，两者都可以作为基因检测前的敏感筛查工具，特别是在医疗资源有限的地区。
