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

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

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Age of Onset
  • Aged
  • Brain / physiopathology*
  • Cerebral Arterial Diseases / genetics*
  • Cerebral Arterial Diseases / physiopathology*
  • Cerebrovascular Disorders / diagnosis
  • Cerebrovascular Disorders / genetics*
  • Cerebrovascular Disorders / physiopathology*
  • Chromosome Aberrations / genetics*
  • Chromosome Disorders
  • Chromosomes, Human, Pair 19
  • Female
  • Genetic Linkage
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Niederlande
  • Pedigree