Furby A, Vahedi K, Force M, Larrouy S, Ruchoux M M, Joutel A, Tournier-Lasserve E
Service de Neurologie, CHG Jégourel, Pontivy, France.
J Neurol. 1998 Nov;245(11):734-40. doi: 10.1007/s004150050277.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a condition caused by mutations of Notch3 gene on chromosome 19. Ultrastructural analysis of skin vessels discloses typical granular osmiophilic material (GOM) within the vascular smooth muscle basal lamina. We describe a CADASIL family in which two members suffering from a vascular leukoencephalopathy were shown to be CADASIL phenocopies: clinical and magnetic resonance imaging (MRI) findings in these two patients were similar to those observed in their affected relatives. However, the skin biopsy performed on one of them did not reveal any GOM in the vascular smooth muscle cells, and the Notch3 mutation present in this family was shown to be absent in these two individuals. We emphasize the role of a direct DNA test for gene mutation to make a differential diagnosis between CADASIL and other forms of vascular leukoencephalopathy.
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）是一种由19号染色体上Notch3基因突变引起的疾病。对皮肤血管的超微结构分析显示，在血管平滑肌基膜内有典型的嗜锇颗粒物质（GOM）。我们描述了一个CADASIL家族，其中两名患有血管性白质脑病的成员被证明是CADASIL的表型模拟：这两名患者的临床和磁共振成像（MRI）结果与他们受影响亲属的观察结果相似。然而，对其中一人进行的皮肤活检未在血管平滑肌细胞中发现任何GOM，并且该家族中存在的Notch3突变在这两个人中未被发现。我们强调直接DNA基因突变检测在鉴别CADASIL和其他形式的血管性白质脑病中的作用。
