@article{14bfa2cda40d418da0245b410905bf10,
title = "Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma",
abstract = " Alexander disease (AD) is an autosomal dominant progressive astrogliopathy caused by pathogenic variants in glial fibrillary acidic protein (GFAP).",
author = "{Undiagnosed Diseases Network} and Keren MacHol and Joseph Jankovic and Dhanya Vijayakumar and Burrage, {Lindsay C.} and Mahim Jain and Lewis, {Richard A.} and Fuller, {Gregory N.} and Mingchu Xu and Marta Penas-Prado and Gule-Monroe, {Maria K.} and Rosenfeld, {Jill A.} and Rui Chen and Eng, {Christine M.} and Yaping Yang and Lee, {Brendan H.} and Moretti, {Paolo M.} and Dhar, {Shweta U.}",
note = "Publisher Copyright: {\textcopyright} 2018 American Academy of Neurology.",
year = "2018",
month = aug,
day = "1",
doi = "10.1212/NXG.0000000000000248",
language = "English (US)",
volume = "4",
journal = "Neurology: Genetics",
issn = "2376-7839",
publisher = "Lippincott Williams and Wilkins",
number = "4",
}