Article
CADASIL mutations sensitize the brain to ischemia via spreading depolarizations and abnormal extracellular potassium homeostasis.
The Journal of clinical investigation - 15 Apr 2022
Oka Fumiaki, Lee Jeong Hyun, Yuzawa Izumi, Li Mei, von Bornstaedt Daniel, Eikermann-Haerter Katharina, Qin Tao, Chung David Y, Sadeghian Homa, Seidel Jessica L, Imai Takahiko, Vuralli Doga, Platt Rosangela M, Nelson Mark T, Joutel Anne, Sakadzic Sava, Ayata Cenk
Abstract excerpt
Cerebral autosomal dominant arteriopathy, subcortical infarcts, and leukoencephalopathy (CADASIL) is the most common monogenic form of small vessel disease characterized by migraine with aura, leukoaraiosis, strokes, and dementia. CADASIL mutations cause cerebrovascular dysfunction in both animal models and humans. Here, we showed that 2 different human CADASIL mutations (Notch3 R90C or R169C) worsen ischemic...
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