CADASIL: clinic and genetic corelation

DEMİR T., Iscan D., Koc F., Bisgin A.

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

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 44
  • Basım Tarihi: 2019
  • Dergi Adı: CUKUROVA MEDICAL JOURNAL
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.41-46
  • Çukurova Üniversitesi Adresli: Evet

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.