CAJ | 학술논문

常染色体显性遗传性脑动脉病伴皮质下梗死和白质脑病（ CADASIL）是一种中年期发病，表现为阿尔茨海默病和偏瘫的常染色体显性遗传的小动脉病，该病的临床表现多样，其典型的临床表现有先兆偏头痛、频发性皮质下短暂性脑缺血发作或缺血性脑卒中、认知能力下降以及精神疾病。近年来，虽然该病在世界各地均有报道，但临床医师对其认识还存在一定不足，误诊率和漏诊率较高。本文总结了该病诊断方法的研究进展，包括临床表现、神经影像学表现、病理检查及基因筛查，同时介绍了新出现的CADASIL量表在该病诊断中的应用，以期为临床早期准确诊治CADASIL提供参考。
상염색체현성유전성뇌동맥병반피질하경사화백질뇌병（ CADASIL）시일충중년기발병，표현위아이자해묵병화편탄적상염색체현성유전적소동맥병，해병적림상표현다양，기전형적림상표현유선조편두통、빈발성피질하단잠성뇌결혈발작혹결혈성뇌졸중、인지능력하강이급정신질병。근년래，수연해병재세계각지균유보도，단림상의사대기인식환존재일정불족，오진솔화루진솔교고。본문총결료해병진단방법적연구진전，포괄림상표현、신경영상학표현、병리검사급기인사사，동시개소료신출현적CADASIL량표재해병진단중적응용，이기위림상조기준학진치CADASIL제공삼고。
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy ( CADASIL) is a dominantly inherited small artery disease that leads to Alzheimer disease and hemiplegia in mid -life.In recent years, the disease has been reported all over the world , while the rates of misdiagnosis and missed diagnosis are high , for clinicians have no sufficient understanding of it.In this article, we summarized the research progress of its diagnosis , such as clinical manifestations , neuroimaging manifestations , histopathologic examination and genetic testing , and introduced the application of CADASIL scale in the diagnosis , in order to provide reference for early accurate diagnosis and treatment of CADASIL.