Late-onset Alexander disease with a V87L mutation in glial fibrillary acidic protein (GFAP) and calcifying lesions in the sub-cortex and cortex-Reference-Cited by-同舟云学术

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Late-onset Alexander disease with a V87L mutation in glial fibrillary acidic protein (GFAP) and calcifying lesions in the sub-cortex and cortex

Published:2011-08-07 Issue:3 Volume:259 Page:457-461
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Suzuki Hidekazu,Yoshida Tomokatsu,Kitada Mari,Ichihashi Juri,Sasayama Hiroshi,Nishikawa Yoshiro,Mistui Yoshiyuki,Nakagawa Masanori,Kusunoki Susumu

Publisher

Springer Science and Business Media LLC

Subject

Clinical Neurology,Neurology

Link

http://link.springer.com/content/pdf/10.1007/s00415-011-6201-z.pdf

Reference13 articles.

1. Alexander WS (1949) Progressive fibrinoid degeneration of fibrillary astrocytes associated with mental retardation in a hydrocephalic infant. Brain 72:373–381

2. Iwaki T, Kume-Iwaki A, Liem RK, Goldman JE (1989) Alpha B-crystallin is expressed in non-lenticular tissues and accumulates in Alexander’s disease brain. Cell 57:71–78

3. Pareyson D, Fancellu R, Mariotti C, Romano S, Salmaggi A, Carella F, Girotti F, Gattellaro G, Carriero MR, Farina L, Ceccherini I, Savoiardo M (2008) Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature. Brain 131:2321–2331

4. Balbi P, Salvini S, Fundarò C, Frazzitta G, Maestri R, Mosah D, Uggetti C, Sechi G (2010) The clinical spectrum of late-onset Alexander disease: a systematic literature review. J Neurol 257:1955–1962

5. Namekawa M, Takiyama Y, Honda J, Shimazaki H, Sakoe K, Nakano I (2010) Adult-onset Alexander disease with typical “tadpole” brainstem atrophy and unusual bilateral basal ganglia involvement: a case report and review of the literature. BMC Neurol 10:21

Cited by 6 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Case report: A novel mutation of glial fibrillary acidic protein gene causing juvenile-onset Alexander disease;Frontiers in Neurology;2024-03-20

2. Identification of a novel de novo pathogenic variant in GFAP in an Iranian family with Alexander disease by whole-exome sequencing;European Journal of Medical Research;2022-09-10

3. Encephalopathies with intracranial calcification in children: clinical and genetic characterization;Orphanet Journal of Rare Diseases;2018-08-16

4. Autonomic dysfunction in adult-onset alexander disease;Clinical Autonomic Research;2013-08-08

5. Effects of a polymorphism in the GFAP promoter on the age of onset and ambulatory disability in late-onset Alexander disease;Journal of Human Genetics;2013-08-01

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