Article
CADASIL brain vessels show a HTRA1 loss-of-function profile.
Acta neuropathologica - 1 Jul 2018
Zellner Andreas, Scharrer Eva, Arzberger Thomas, Oka Chio, Domenga-Denier Valérie, Joutel Anne, Lichtenthaler Stefan F, Müller Stephan A, Dichgans Martin, Haffner Christof
Abstract excerpt
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and a phenotypically similar recessive condition (CARASIL) have emerged as important genetic model diseases for studying the molecular pathomechanisms of cerebral small vessel disease (SVD). CADASIL, the most frequent and intensely explored monogenic SVD, is characterized by a severe pathology in the cerebral...
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