Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma

Undiagnosed Diseases Network

doi:10.1212/NXG.0000000000000248

Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma

Undiagnosed Diseases Network

Baylor College of Medicine
Department of Molecular and Human Genetics
University of Texas MD Anderson Cancer Center

Research output: Contribution to journal › Article › peer-review

5 Scopus citations

Abstract

Alexander disease (AD) is an autosomal dominant progressive astrogliopathy caused by pathogenic variants in glial fibrillary acidic protein (GFAP).

Original language	English
Article number	e248
Journal	Neurology: Genetics
Volume	4
Issue number	4
DOIs	https://doi.org/10.1212/NXG.0000000000000248
State	Published - 1 Aug 2018
Externally published	Yes

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10.1212/NXG.0000000000000248

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@article{37f178964dfd40cf9b24f057b63d0b12,

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",

volume = "4",

journal = "Neurology: Genetics",

issn = "2376-7839",

publisher = "Lippincott Williams and Wilkins",

number = "4",

}

TY - JOUR

T1 - Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma

AU - Undiagnosed Diseases Network

AU - MacHol, Keren

AU - Jankovic, Joseph

AU - Vijayakumar, Dhanya

AU - Burrage, Lindsay C.

AU - Jain, Mahim

AU - Lewis, Richard A.

AU - Fuller, Gregory N.

AU - Xu, Mingchu

AU - Penas-Prado, Marta

AU - Gule-Monroe, Maria K.

AU - Rosenfeld, Jill A.

AU - Chen, Rui

AU - Eng, Christine M.

AU - Yang, Yaping

AU - Lee, Brendan H.

AU - Moretti, Paolo M.

AU - Dhar, Shweta U.

PY - 2018/8/1

Y1 - 2018/8/1

N2 - Alexander disease (AD) is an autosomal dominant progressive astrogliopathy caused by pathogenic variants in glial fibrillary acidic protein (GFAP).

AB - Alexander disease (AD) is an autosomal dominant progressive astrogliopathy caused by pathogenic variants in glial fibrillary acidic protein (GFAP).

UR - https://www.scopus.com/pages/publications/85060816372

U2 - 10.1212/NXG.0000000000000248

DO - 10.1212/NXG.0000000000000248

M3 - Article

AN - SCOPUS:85060816372

SN - 2376-7839

VL - 4

JO - Neurology: Genetics

JF - Neurology: Genetics

IS - 4

M1 - e248

ER -

Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma

Abstract

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