Article
Heterozygous mutations of HTRA1 gene in patients with familial cerebral small vessel disease.
CNS neuroscience & therapeutics - 1 Sept 2017
Di Donato Ilaria, Bianchi Silvia, Gallus Gian Nicola, Cerase Alfonso, Taglia Ilaria, Pescini Francesca, Nannucci Serena, Battisti Carla, Inzitari Domenico, Pantoni Leonardo, Zini Andrea, Federico Antonio, Dotti Maria Teresa
Abstract excerpt
AIMS: Cerebral small vessel disease (SVD) is the leading cause of vascular dementia. Although the most of cases are sporadic, familial monogenic causes have been identified in a growing minority of patients. CADASIL, due to mutations of NOTCH3 gene, is the most common genetic SVD, and CARASIL, linked to HTRA1 gene mutations, is a rare but well known autosomal recessive SVD. Recently, also heterozygous HTRA1...
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