Article
Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke.
Proceedings of the National Academy of Sciences of the United States of America - 29 Mar 2011
Xin Baozhong, Jones Stephen, Puffenberger Erik G, Hinze Claas, Bright Alicia, Tan Haiyan, Zhou Aimin, Wu Guiyun, Vargus-Adams Jilda, Agamanolis Dimitris, Wang Heng
Abstract excerpt
We describe an autosomal recessive condition characterized with cerebral vasculopathy and early onset of stroke in 14 individuals in Old Order Amish. The phenotype of the condition was highly heterogeneous, ranging from severe developmental disability to normal schooling. Cerebral vasculopathy was a major hallmark of the condition with a common theme of multifocal stenoses and aneurysms in large arteries,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.