LaPoint S F, Patel U, Rubio A
Department of Pathology, University of Rochester School of Medicine, New York, USA.
Adv Anat Pathol. 2000 Sep;7(5):307-21. doi: 10.1097/00125480-200007050-00004.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a recently described neurovascular disease affecting young to middle age individuals. The disease is caused by mutations in the Notch3 gene located in the short arm of chromosome 19. Clinically, the disease is characterized by migrainous headaches (with or without aura), mood disturbances, focal neurologic deficits, transient ischemic attacks, strokes, and dementia. Pathologically, the disease is characterized by a stereotypic degeneration of the arterial walls (especially in the intracranial compartments) with deposition in the media of a nonatheromatous, nonamyloidotic substance that under the electron microscope (EM) appears as a granular osmiophilic material (GOM), pathognomonic for the disease. The nature of the GOM is undetermined and the pathogenesis remains to be elucidated. A review of current literature in English language is presented on the clinical, radiologic, pathologic, and genetic features of 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（CADASIL）是一种最近才被描述的神经血管疾病，影响年轻至中年个体。该疾病由位于19号染色体短臂上的Notch3基因突变引起。临床上，该疾病的特征为偏头痛性头痛（伴或不伴先兆）、情绪障碍、局灶性神经功能缺损、短暂性脑缺血发作、中风和痴呆。病理上，该疾病的特征是动脉壁（尤其是颅内部分）出现刻板性退变，在中膜有非动脉粥样硬化、非淀粉样物质沉积，在电子显微镜下表现为颗粒状嗜锇物质（GOM），这是该疾病的特征性表现。GOM的性质尚未确定，其发病机制仍有待阐明。本文对CADASIL的临床、放射学、病理学和遗传学特征进行了英文文献综述。
