Phenotypic variability of a likely FA2H founder mutation in a family with complicated hereditary spastic paraplegia.
作者信息
Donkervoort S, Dastgir J, Hu Y, Zein W M, Marks H, Blackstone C, Bönnemann C G
机构信息
Neurogenetics Branch, Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institutes of Health, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA.
出版信息
Clin Genet. 2014 Apr;85(4):393-5. doi: 10.1111/cge.12185. Epub 2013 Jun 10.
Abstract
摘要
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本文引用的文献
1
Novel Mutations in FA2H-Associated Neurodegeneration: An Underrecognized Condition?FA2H相关神经退行性变中的新突变：一种未被充分认识的疾病？
J Child Neurol. 2013 Nov;28(11):1500-1504. doi: 10.1177/0883073812458538. Epub 2012 Sep 10.
2
Atypical adult onset complicated spastic paraparesis with thin corpus callosum in two patients carrying a novel FA2H mutation.两名携带新型FA2H突变的患者出现非典型成人起病的复杂痉挛性截瘫并伴有胼胝体变薄。
Eur J Neurol. 2012 Nov;19(11):e127-9. doi: 10.1111/j.1468-1331.2012.03838.x. Epub 2012 Aug 27.
3
Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration.外显子组测序和 SNP 分析检测到脂肪酸羟化酶相关神经退行性变中的新型复合杂合性。
Eur J Hum Genet. 2012 Apr;20(4):476-9. doi: 10.1038/ejhg.2011.222. Epub 2011 Dec 7.
4
Three faces of the same gene: FA2H links neurodegeneration with brain iron accumulation, leukodystrophies, and hereditary spastic paraplegias.同一基因的三个方面：FA2H 将神经退行性变与脑铁蓄积、脑白质营养不良和遗传性痉挛性截瘫联系起来。
Ann Neurol. 2010 Nov;68(5):575-7. doi: 10.1002/ana.22211.
5
Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA).FA2H 缺陷导致一种新型的伴有脑铁蓄积的神经退行性变（NBIA）。
Ann Neurol. 2010 Nov;68(5):611-8. doi: 10.1002/ana.22122.
6
Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35).FA2H 突变是一种复杂遗传性痉挛性截瘫（SPG35）的致病原因。
Hum Mutat. 2010 Apr;31(4):E1251-60. doi: 10.1002/humu.21205.
7
Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia.脂肪酸2-羟化酶基因突变与伴有痉挛性截瘫和肌张力障碍的脑白质营养不良相关。
Am J Hum Genet. 2008 Nov;83(5):643-8. doi: 10.1016/j.ajhg.2008.10.010.
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