一个四代荷兰家族，患有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），与19号染色体p13区域连锁。

A four-generation Dutch family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), linked to chromosome 19p13.

作者信息

Wielaard R, Bornebroek M, Ophoff R A, Winter-Warnars H A, Scheltens P, Frants R R, Ferrari M D, Haan J

机构信息

Department of Neurology, Hofpoort Hospital, Woerden, Netherlands.

出版信息

Clin Neurol Neurosurg. 1995 Nov;97(4):307-13. doi: 10.1016/0303-8467(95)00068-u.

DOI:10.1016/0303-8467(95)00068-u

PMID:8599897

Abstract

We describe a four-generation Dutch family suffering from cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Of twenty affected family members, ten are still alive. Age at onset of the strokes was between 29 and 52 years, with a mean of 41.8 years. This family has the typical clinical and radiological features of CADASIL (except for the occurrence of ischemic heart disease at a relatively young age in some subjects), and is linked to chromosome 19p13. This disease has so far been described in families from Finland, France, Germany, Italy, Japan, Spain and the United Kingdom, and there is a remarkable clinical and genetical homogeneity among all families reported, including this Dutch family.

摘要

我们描述了一个患有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）的四代荷兰家族。在二十名受影响的家族成员中，有十人仍然在世。中风发病年龄在29岁至52岁之间，平均为41.8岁。这个家族具有CADASIL的典型临床和放射学特征（除了一些受试者在相对年轻时出现缺血性心脏病外），并且与19号染色体p13区域连锁。迄今为止，这种疾病已在来自芬兰、法国、德国、意大利、日本、西班牙和英国的家族中被描述，并且在所有报道的家族中，包括这个荷兰家族，都存在显著的临床和遗传同质性。