Turgay DEMİR, Dilek İŞCAN, Filiz KOÇ, Atıl BİŞGİN

CADASIL: Klinik-Genetik Korelasyon

CADASIL (Cerebral Autosomal Dominant Arteriopati, Subcortical Infarcts, Leukoencephalopathy) 19. kromozomun kısa kolunda lokalize Notch3 gen mutasyonu sonucu gelişen otozomal dominant geçişli ailesel küçük damar hastalığıdır. Klinik olarak tekrarlayan inme atakları, migren veya migrenöz başağrıları, epileptik nöbetler ve progresif kognitif bozukluk ile karakterizedir. Bu yazıda klinik olarak CADASIL düşündüğümüz, moleküler çalışma ile CADASIL tanısını konfirme ettiğimiz dört olgu klinik ve genetik özellikleri ile sunulmuştur.

Anahtar Kelimeler:

CADASIL, , başağrısı

CADASIL: Clinic and Genetic Corelation

CADASIL (Cerebral Autosomal Dominant Arteriopathy, Subcortical Infarcts, Leukoencephalopathy). It is an autosomal dominant familial small vessel disease caused by the mutation of the Notch3 gene in the short arm of the chromosome 19. 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 moleculer analyses.

Keywords:

headache; stroke; dementia,

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