@article{beb800bf6cb64a3fbfa16ce9e00a54a9,
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 = "Funding Information: This work was supported by the BCM Intellectual and Developmental Disabilities Research Center (HD024064) from the NICHD and NIH/NHGRI U01 HG007709 Clinical Site for a UDN. The content is solely the responsibility of the authors and does not necessarily represent the official views of the NIH. The Department of Molecular and Human Genetics at Baylor College of Medicine receives revenue from clinical genetic testing offered by Baylor Genetics. 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",
}