Pathologic Alexander Disease with Normal GFAP Sequencing: An Autopsy Case Report and Literature Review

被引：2

作者：

Alexander, Abigail L. ^{[1
]}

Lim, Swee Yang ^{[2
]}

Massingham, Lauren J. ^{[3
]}

Phillips, Oliver ^{[2
]}

Chambers, Mary-Kathryn ^{[3
]}

Donahue, John E. ^{[4
]}

机构：

[1] Brown Univ, Dept Pathol & Lab Med, 593 Eddy St, Providence, RI 40133 USA

[2] Brown Univ, Dept Neurol, Providence, RI 02912 USA

[3] Brown Univ, Dept Genet, Providence, RI 02912 USA

[4] Brown Univ, Dept Neuropathol, Providence, RI 02912 USA

来源：

JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY | 2022年 / 81卷 / 12期

关键词：

MUTATIONS;

D O I：

10.1093/jnen/nlac086

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

[No abstract available]

引用

页码：1033 / 1036

页数：4

共 16 条

[1] Splice site, frameshift, and chimeric GFAP mutations in Alexander disease [J].

Flint, Daniel ;

Li, Rong ;

Webster, Lital S. ;

Naidu, Sakkubai ;

Kolodny, Edwin ;

Percy, Alan ;

van der Knaap, Marjo ;

Powers, James M. ;

Mantovani, John F. ;

Ekstein, Josef ;

Goldman, James E. ;

Messing, Albee ;

Brenner, Michael .

HUMAN MUTATION, 2012, 33 (07) :1141-1148

[2] Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform [J].

Helman, Guy ;

Takanohashi, Asako ;

Hagemann, Tracy L. ;

Perng, Ming D. ;

Walkiewicz, Marzena ;

Woidill, Sarah ;

Sase, Sunetra ;

Cross, Zachary ;

Du, Yangzhu ;

Zhao, Ling ;

Waldman, Amy ;

Haake, Bret C. ;

Fatemi, Ali ;

Brenner, Michael ;

Sherbini, Omar ;

Messing, Albee ;

Vanderver, Adeline ;

Simons, Cas .

HUMAN MUTATION, 2020, 41 (06) :1131-1137

[3] The mutational constraint spectrum quantified from variation in 141,456 humans [J].

Karczewski, Konrad J. ;

Francioli, Laurent C. ;

Tiao, Grace ;

Cummings, Beryl B. ;

Alfoldi, Jessica ;

Wang, Qingbo ;

Collins, Ryan L. ;

Laricchia, Kristen M. ;

Ganna, Andrea ;

Birnbaum, Daniel P. ;

Gauthier, Laura D. ;

Brand, Harrison ;

Solomonson, Matthew ;

Watts, Nicholas A. ;

Rhodes, Daniel ;

Singer-Berk, Moriel ;

England, Eleina M. ;

Seaby, Eleanor G. ;

Kosmicki, Jack A. ;

Walters, Raymond K. ;

Tashman, Katherine ;

Farjoun, Yossi ;

Banks, Eric ;

Poterba, Timothy ;

Wang, Arcturus ;

Seed, Cotton ;

Whiffin, Nicola ;

Chong, Jessica X. ;

Samocha, Kaitlin E. ;

Pierce-Hoffman, Emma ;

Zappala, Zachary ;

O'Donnell-Luria, Anne H. ;

Minikel, Eric Vallabh ;

Weisburd, Ben ;

Lek, Monkol ;

Ware, James S. ;

Vittal, Christopher ;

Armean, Irina M. ;

Bergelson, Louis ;

Cibulskis, Kristian ;

Connolly, Kristen M. ;

Covarrubias, Miguel ;

Donnelly, Stacey ;

Ferriera, Steven ;

Gabriel, Stacey ;

Gentry, Jeff ;

Gupta, Namrata ;

Jeandet, Thibault ;

Kaplan, Diane ;

Llanwarne, Christopher .

NATURE, 2020, 581 (7809) :434-+

[4] Crystal structure of the human glial fibrillary acidic protein 1B domain [J].

Kim, Bitnarae ;

Kim, Seungsu ;

Jin, Mi Sun .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2018, 503 (04) :2899-2905

[5] Aggregation-prone GFAP mutation in Alexander disease validated using a zebrafish model [J].

Lee, So-Hyun ;

Nam, Tai-Seung ;

Kim, Kun-Hee ;

Kim, Jin Hee ;

Yoon, Woong ;

Heo, Suk-Hee ;

Kim, Min Jung ;

Shin, Boo Ahn ;

Perng, Ming-Der ;

Choy, Hyon E. ;

Jo, Jihoon ;

Kim, Myeong-Kyu ;

Choi, Seok-Yong .

BMC NEUROLOGY, 2017, 17

[6] Propensity for paternal inheritance of de novo mutations in Alexander disease [J].

Li, R ;

Johnson, AB ;

Salomons, GS ;

van der Knaap, MS ;

Rodriguez, D ;

Boespflug-Tanguy, O ;

Gorospe, JR ;

Goldman, JE ;

Messing, A ;

Brenner, M .

HUMAN GENETICS, 2006, 119 (1-2) :137-144

[7] Alexander Disease [J].

Messing, Albee ;

Brenner, Michael ;

Feany, Mel B. ;

Nedergaard, Maiken ;

Goldman, James E. .

JOURNAL OF NEUROSCIENCE, 2012, 32 (15) :5017-5023

[8] Elevated GFAP Induces Astrocyte Dysfunction in Caudal Brain Regions: A Potential Mechanism for Hindbrain Involved Symptoms in Type II Alexander Disease [J].

Minkel, Heather R. ;

Anwer, Tooba Z. ;

Arps, Kara M. ;

Brenner, Michael ;

Olsen, Michelle L. .

GLIA, 2015, 63 (12) :2285-2297

[9] Novel Glial Fibrillary Acidic Protein Variant in a Probable Adult-Onset Alexander Disease [J].

Mork, Elayna ;

Jamshidi, Pouya ;

Lee, John M. .

JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 2022, 81 (05) :384-386

[10] 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

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