@article{99a637530f154003854f4f326fb3b62c,
title = "Novel de novo TREX1 mutation in a patient with retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations mimicking demyelinating disease",
abstract = "Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is a rare fatal autosomal dominant vasculopathy associated with mutations in the TREX1 gene. Only one de novo case has been reported in the literature. We report the long-term clinical, radiological, and pathological presentation of a patient with a de novo and novel mutation in this gene. Description of the clinical, genetic, imaging and pathologic characteristics is important to better characterize RVCL-S and prevent unnecessary interventions. RVCL-S should be considered in patients with tumefactive brain lesions unresponsive to immunotherapy.",
keywords = "Leukoencephalopathy, Novel, Retinal vasculopathy, TREX1, de novo",
author = "Gabrielle Macaron and Jean Khoury and Hajj-Ali, {Rula A.} and Prayson, {Richard A.} and Sunil Srivastava and Ehlers, {Justis P.} and Hafsa Mamsa and Liszewski, {M. Kathryn} and Jen, {Joanna C.} and Bermel, {Robert A.} and Daniel Ontaneda",
note = "Funding Information: Daniel Ontaneda has received research support from the National Multiple Sclerosis Society, National Institutes of Health, Patient Centered Outcomes Research Institute, Race to Erase MS Foundation, Genentech, Genzyme, and Novartis. He has also received consulting fees from Biogen Idec, Jannsen, Genentech/Roche, Genzyme, and Merck. Publisher Copyright: {\textcopyright} 2021",
year = "2021",
month = jul,
doi = "10.1016/j.msard.2021.103015",
language = "English",
volume = "52",
journal = "Multiple Sclerosis and Related Disorders",
issn = "2211-0348",
}