Novel GFAP mutation in patient with adult-onset Alexander disease presenting with spastic ataxia-Reference-Cited by-同舟云学术

Novel GFAP mutation in patient with adult-onset Alexander disease presenting with spastic ataxia

Published:2009-05-01 Issue:9 Volume:24 Page:1393-1395
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Mov. Disord.

Author:

Kaneko Hiroyuki,Hirose Masaki,Katada Shinichi,Takahashi Toshiaki,Naruse Satoshi,Tsuchiya Miyuki,Yoshida Tomokatsu,Nakagawa Masanori,Onodera Osamu,Nishizawa Masatoyo,Ikeuchi Takeshi

Funder

Grant-in-Aid

Research Committee for Ataxic Diseases

Ministry of Health, Labor and Welfare, Japan

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mds.22556/fullpdf

Reference7 articles.

1. Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease;Li;Ann Neurol,2005

2. Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease;Brenner;Nat Genet,2001

3. The functional alteration of mutant GFAP depends on the location of the domain: morphological and functional studies using astrocytoma-derived cells;Yoshida;J Hum Genet,2007

4. The Alexander disease-causing glial fibrillary acidic protein mutant, R416W, accumulates into Rosenthal fibers by a pathway that involves filament aggregation and the association of αB-crystallin and HSP27;Perng;Am J Hum Genet,2006

5. Identification of GFAP gene mutation in hereditary adult-onset Alexander's disease;Namekawa;Ann Neurol,2002

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