Research Paper: 2012 deVries

Date Published : 02/01/2012

Summary: Intracerebral Hemorrhage and COL4A1 and COL4A2 Mutations, from Fetal Life into Adulthood.

Abstract: Cerebral small vessel disease (SVD) is an important cause of stroke, and an increasing number of single- gene disorders causing SVD have recently been identified. Of these, CADASIL (cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is most common; others such as mutations in the HtrA serine protease 1 (HTRA1) gene and the TREX1 gene have also been identified.1–3
In this issue of Annals of Neurology, Weng and colleagues4 investigated the potential role of COL4A1 mutations in patients with sporadic late onset intracerebral hemorrhage (ICH).