CADASIL: clinic and genetic corelation


DEMİR T. , Iscan D., Koc F., Bisgin A.

CUKUROVA MEDICAL JOURNAL, vol.44, pp.41-46, 2019 (Journal Indexed in ESCI) identifier

  • Publication Type: Article / Article
  • Volume: 44
  • Publication Date: 2019
  • Title of Journal : CUKUROVA MEDICAL JOURNAL
  • Page Numbers: pp.41-46

Abstract

CADASIL (Cerebral Autosomal Dominant Arteriopathy, Subcortical Infarcts, Leukoencephalopathy) 19. It is an autosomal dominant familial small vessel disease caused by the mutation of the Notch3 gene in the short arm of the chromosome. Clinically it is characterized by recurrent stroke attacks, migraine or migraineous headaches, epileptic seizures and progressive cognitive impairment. In this article, we report four cases of CADASIL that we have clinically evaluated CADASIL and confirmed the diagnosis by genetic examination.