Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)

Yıl 2022, Cilt: 2 Sayı: 2, 59 - 65, 25.12.2022

Gül Ateş , Melise Gözde Kütük , Şebnem Bıçakcı

Öz

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a small vessel disease. It is an autosomal dominant inherited disease caused by a mutation in the Notch3 gene. It affects many systems as it gives multiple symptoms. The earliest and most common symptom is migraine. It is thought that the Notch3 gene may act as a sensitivity marker in migraine with aura. It has been reported more frequently with ischemic stroke attack. It may also present with acute leukoencephalopathy, accompanied by seizures and cognitive changes. Psychiatric symptoms, defined as vascular depression and complicating the patient's social life, are observed. In addition, due to small vessel disease, we may encounter peripheral neuropathy and myopathy in some patients. Family screening and genetic counseling have an important place here, as it can show different phenotypes due to environmental effects and is an autosomal dominant disease. In this article, we tried to compile and present the effects, symptoms and neuropathology of CADASIL disease.

Anahtar Kelimeler

CADASIL, Notch3 gene, mutation

Serebral otozomal dominant arteriyopati ile subkortikal enfarktlar ve lökoensefalopati (CADASIL)

Öz

Serebral otozomal dominant arteriyopati ile subkortikal enfarklar ve lökoensefalopati (CADASIL) küçük damar hastalığıdır. Notch3 genindeki mutasyon sonucunda ortaya çıkan otozomal dominant geçişli bir hastalıktır. Birden fazla semptom verdiğinden bir sürü sistemi etkiler. En erken ve sık belirtisi migrendir. Auralı migrende Notch3 geninin duyarlılık belirteci olarak davranabileceği düşünülmektedir. Daha sık iskemik inme atağıyla raporlanmıştır. Nöbetler ve bilişsel değişikliklerle beraber seyreden akut lökoensefalopati tablosuyla da gelebilir. Vasküler depresyon olarak tanımlanan ve hastanın sosyal hayatını zorlaştıran psikiyatrik semptomlar görülmektedir. Bunun yanı sıra küçük damar hastalığı olduğundan bazı hastalarda periferik nöropati ve myopatiye de rastlayabiliriz. Çevre etkisiyle de değişik fenotip gösterebildiği ve otozomal dominant bir hastalık olması sebebiyle aile taraması ve genetik danışmanlık burada önemli bir yer tutmaktadır. Bu makalede CADASIL hastalığının etkileri, semptomları ve nöropatolojisi gözden geçirilmiştir.

Anahtar Kelimeler

CADASIL, , Notch3 geni, mutasyon

Kaynakça

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