One Disease with two Faces: Semidominant Inheritance of a Novel HTRA1 Mutation in a Consanguineous Family

Cerebral small vessel disease (CSVD) is a common form of neurological disease in elderly that leads to stroke, dementia, mood disturbance and gait problems. In the recent years, several inherited forms of CSVD have been recognized and linked to genes on autosomes and X chromosome.1 Among these, Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CARASIL, MIM 600142) and Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL, MIM 125310, MIM 616779) are two single-gene disorders characterized with progressive ischemic leukoencephalopathy, lacunar strokes and vascular dementia.

Source: Journal of Stroke and Cerebrovascular Diseases - July 21, 2021 Category: Neurology Authors: Can Ebru Bekircan-Kurt, Arda Çetinkaya, Rahsan Gocmen, Can Koşukcu, Figen Soylemezoglu, Ethem Murat Arsava, Asli Tuncer, Sevim Erdem-Ozdamar, Nurten A. Akarsu, Mehmet Akif Topcuoglu Source Type: research