The defining pathology of the new clinical and histopathologic entity ACTA2-related cerebrovascular disease.

ABSTRACT:

Introduction

Smooth muscle cell contraction is an essential function of arteries and relies on the integrity of the actin-myosin apparatus. The tissue-specific α2-smooth muscle actin, encoded by ACTA2, is predominantly expressed in vascular smooth muscle cells. ACTA2 mutations predispose to development of aortic aneurysms and early onset coronary and cerebrovascular disease. Based on arteriographic findings, a distinct cerebrovascular disease has been proposed for ACTA2 heterozygous patients carrying the R179H mutation.

Results

We present the first integrated analysis of a severely compromised patient with the R179H mutation and define the arterial pathology of ACTA2-related cerebrovascular disease. Histologically, striking morphological abnormalities were present in cerebra

SUBMITTER: Georgescu MM 

PROVIDER: S-EPMC4670506 | biostudies-literature | 2015 Dec

REPOSITORIES: biostudies-literature