CADASIL: Klinik-Genetik Korelasyon

descriptionPublicationkeyboard_double_arrow_right Article 21 Jan 2021Publisher:Osmangazi Journal of MedicineJournal:OSMANGAZİ JOURNAL OF MEDICINE, volume 00 (issn: 1305-4953,

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Authors: DEMİR, Turgay; İŞCAN, Dilek; KOÇ, Filiz; BİŞGİN, Atıl;

doi: 10.20515/otd.737592

CADASIL: Klinik-Genetik Korelasyon

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Abstract

CADASIL (Cerebral Autosomal Dominant Arteriopati, Subcortical Infarcts, Leukoencephalopathy) 19. kromozomun kisa kolunda lokalize Notch3 gen mutasyonu sonucu gelisen otozomal dominant gecisli ailesel kucuk damar hastaligidir. Klinik olarak tekrarlayan inme ataklari, migren veya migrenoz basagrilari, epileptik nobetler ve progresif kognitif bozukluk ile karakterizedir. Bu yazida klinik olarak CADASIL dusundugumuz, molekuler calisma ile CADASIL tanisini konfirme ettigimiz dort olgu klinik ve genetik ozellikleri ile sunulmustur.

Related Organizations

Cukurova University
Turkey
Aksaray University
Turkey

Keywords

headache; stroke; dementia, CADASIL;başağrısı, Health Care Administration, Sağlık Kurumları Yönetimi

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