CADASIL: clinic and genetic corelation


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

CUKUROVA MEDICAL JOURNAL, cilt.44, ss.41-46, 2019 (ESCI İndekslerine Giren Dergi) identifier

  • Cilt numarası: 44
  • Basım Tarihi: 2019
  • Dergi Adı: CUKUROVA MEDICAL JOURNAL
  • Sayfa Sayıları: ss.41-46

Özet

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.