常染色体显性遗传病伴皮质下梗死和白质脑病的临床研究进展

常染色体显性遗传病伴皮质下梗死和白质脑病(cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy,CADASIL)是一种临床上罕见的以中年人发病的遗传性微小动脉疾病,由19号染色体上Notch3基因突变所致的遗传性卒中疾病.该病患者初期多有偏头痛发作史,中年时反复发作短暂性脑缺血发作(transient ischemic attack, TIA)或缺血脑卒中,病程晚期患者可出现进行性加重的痴呆及精神症状.头颅磁共振成像(magnetic resonance imaging,MRI)检查显示双侧大脑半球多发的白质病变,为本病特征性的影像学表现.本文总结了该病临床研究进展,包括临床表现、神经影像学表现、CADASIL量表、病理学及分子遗传学,以加深对该病的认识,从而有助于早期诊断,减少误诊和漏诊.

Advances in clinical research of CADASIL

The cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a clinically rare hereditary disease of micro-arteries in the middle-aged people.It is single-gene hereditary stroke disorders caused by Notch3 gene mutations on chromosome 19.Patients with early onset have migraine attack history,middle-aged cases show recurrent episodes of transient ischemic attack (Transient ischemic attack,TIA) or cerebral ischemic stroke,and patients with advanced disease may appear progressive increase in dementia and psychiatric symptoms.Bilateral cerebral hemisphere multiple white matter lesions with head magnetic resonance imaging (MRI) are the characteristics of imaging findings of the disease.This paper summarizes the clinical research progress,including clinical manifestations,neuroimaging performance,CADASIL scale,pathology and molecular genetics,in order to deepen the understanding of this disease and thus contribute to its early diagnosis,reduction of misdiagnosis and missed diagnosis.