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

被引：5

作者：

Machol, Keren ^{[1
]}

Jankovic, Joseph ^{[2
]}

Vijayakumar, Dhanya ^{[2
]}

Burrage, Lindsay C. ^{[1
]}

Jain, Mahim ^{[1
]}

Lewis, Richard A. ^{[1
,3
]}

Fuller, Gregory N. ^{[4
]}

Xu, Mingchu ^{[1
]}

Penas-Prado, Marta ^{[5
]}

Gule-Monroe, Maria K. ^{[6
]}

Rosenfeld, Jill A. ^{[1
]}

Chen, Rui ^{[1
]}

Eng, Christine M. ^{[1
,8
]}

Yang, Yaping ^{[1
,8
]}

Lee, Brendan H. ^{[1
]}

Moretti, Paolo M. ^{[1
,2
,7
]}

Dhar, Shweta U. ^{[1
,9
]}

机构：

[1] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[2] Baylor Coll Med, Dept Neurol, Houston, TX 77030 USA

[3] Baylor Coll Med, Dept Ophthalmol, Houston, TX 77030 USA

[4] Univ Texas MD Anderson Canc Ctr, Dept Pathol, Houston, TX 77030 USA

[5] Univ Texas MD Anderson Canc Ctr, Dept Neurooncol, Houston, TX 77030 USA

[6] Univ Texas MD Anderson Canc Ctr, Dept Diagnost Imaging, Houston, TX 77030 USA

[7] Baylor Coll Med, Michael E DeBakey VA Med Ctr, Houston, TX 77030 USA

[8] Baylor Coll Med, Baylor Genet, Houston, TX 77030 USA

[9] Baylor Coll Med, Dept Med, Houston, TX 77030 USA

来源：

NEUROLOGY-GENETICS | 2018年 / 4卷 / 04期

关键词：

GFAP;

D O I：

10.1212/NXG.0000000000000248

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Alexander disease (AD) is an autosomal dominant progressive astrogliopathy caused by pathogenic variants in glial fibrillary acidic protein (GFAP). 1 Clinical presentation of AD includes infantile AD, characterized by psychomotor retardation, seizures, pyramidal signs, and megalencephaly; juvenile AD, characterized by bulbar/pseudobulbar signs, hyperreflexia, lower limb spasticity, ataxia, loss of intellectual function, and macrocephaly; and adult-onset AD, characterized by progressive bulbar symptoms, ataxia, palatal myoclonus, bladder dysfunction, and spastic paraparesis 1 © 2018 American Academy of Neurology.

引用

页数：4

共 7 条

[1] Adult-onset Alexander disease [J].

Balbi, Pietro ;

Seri, Marco ;

Ceccherini, Isabella ;

Uggetti, Carla ;

Casale, Roberto ;

Fundaro, Cira ;

Caroli, Francesco ;

Santoro, Lucio .

JOURNAL OF NEUROLOGY, 2008, 255 (01) :24-30

[2] Focal Central White Matter Lesions in Alexander Disease [J].

Barreau, Pauline ;

Prust, Morgan J. ;

Crane, Jeremy ;

Loewenstein, Johanna ;

Kadom, Nadja ;

Vanderver, Adeline .

JOURNAL OF CHILD NEUROLOGY, 2011, 26 (11) :1422-1424

[3] ALEXANDERS DISEASE - A DISEASE OF ASTROCYTES [J].

BORRETT, D ;

BECKER, LE .

BRAIN, 1985, 108 (JUN) :367-385

[4] Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation [J].

Posey, Jennifer E. ;

Harel, Tamar ;

Liu, Pengfei ;

Rosenfeld, Jill A. ;

James, Regis A. ;

Akdemir, Zeynep H. Coban ;

Walkiewicz, Magdalena ;

Bi, Weimin ;

Xiao, Rui ;

Ding, Yan ;

Xia, Fan ;

Beaudet, Arthur L. ;

Muzny, Donna M. ;

Gibbs, Richard A. ;

Boerwinkle, Eric ;

Eng, Christine M. ;

Sutton, V. Reid ;

Shaw, Chad A. ;

Plon, Sharon E. ;

Yang, Yaping ;

Lupski, James R. .

NEW ENGLAND JOURNAL OF MEDICINE, 2017, 376 (01) :21-31

[5] GFAP mutations, age at onset, and clinical subtypes in Alexander disease [J].

Prust, M. ;

Wang, J. ;

Morizono, H. ;

Messing, A. ;

Brenner, M. ;

Gordon, E. ;

Hartka, T. ;

Sokohl, A. ;

Schiffmann, R. ;

Gordish-Dressman, H. ;

Albin, R. ;

Amartino, H. ;

Brockman, K. ;

Dinopoulos, A. ;

Dotti, M. T. ;

Fain, D. ;

Fernandez, R. ;

Ferreira, J. ;

Fleming, J. ;

Gill, D. ;

Griebel, M. ;

Heilstedt, H. ;

Kaplan, P. ;

Lewis, D. ;

Nakagawa, M. ;

Pedersen, R. ;

Reddy, A. ;

Sawaishi, Y. ;

Schneider, M. ;

Sherr, E. ;

Takiyama, Y. ;

Wakabayashi, K. ;

Gorospe, J. R. ;

Vanderver, A. .

NEUROLOGY, 2011, 77 (13) :1287-1294

[6] GFAP and its role in Alexander disease [J].

Quinlan, Roy A. ;

Brenner, Michael ;

Goldman, James E. ;

Messing, Albee .

EXPERIMENTAL CELL RESEARCH, 2007, 313 (10) :2077-2087

[7] Hemidystonia-Hemiatrophy Syndrome [J].

Wijemanne, Subhashie ;

Jankovic, Joseph .

MOVEMENT DISORDERS, 2009, 24 (04) :583-589

← 1 →