Heterozygous mutations of HTRA1 gene in patients with familial cerebral small vessel disease.

ABSTRACT:

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 mutations have been described in patients with familial SVD. To detect a genetic cause of familial SVD, we performed mutational analysis of HTRA1 gene in a large cohort of Italian NOTCH3-negative patients.

Methods

We recruited 142 NOTCH3-negative patients and 160 healthy age-matched controls. Additional control data were obtained from five pathogenicity prediction software

SUBMITTER: Di Donato I 

PROVIDER: S-EPMC6492684 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature