Article
Neuroimaging Findings in Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations.
AJNR. American journal of neuroradiology - 1 Sept 2021
Hoogeveen E S, Pelzer N, de Boer I, van Buchem M A, Terwindt G M, Kruit M C
Abstract excerpt
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations is caused by TREX1 mutations. High-quality systematic follow-up neuroimaging findings have not been described in presymptomatic and symptomatic mutation carriers. We present MR imaging findings of 29 TREX1 mutation carriers (20-65 years of age) and follow-up of 17 mutation carriers (30-65 years of age). Mutation carriers younger...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.