弗里德赖希共济失调：概述
Friedreich ataxia: an overview.
作者信息
Delatycki M B, Williamson R, Forrest S M
机构信息
Murdoch Institute, Royal Children's Hospital, Flemington Road, Parkville 3052, Victoria, Australia.
出版信息
J Med Genet. 2000 Jan;37(1):1-8. doi: 10.1136/jmg.37.1.1.
Friedreich ataxia, an autosomal recessive neurodegenerative disease, is the most common of the inherited ataxias. The recent discovery of the gene that is mutated in this condition, FRDA, has led to rapid advances in the understanding of the pathogenesis of Friedreich ataxia. About 98% of mutant alleles have an expansion of a GAA trinucleotide repeat in intron 1 of the gene. This leads to reduced levels of the protein, frataxin. There is mounting evidence to suggest that Friedreich ataxia is the result of accumulation of iron in mitochondria leading to excess production of free radicals, which then results in cellular damage and death. Currently there is no known treatment that alters the natural course of the disease. The discovery of the FRDA gene and its possible function has raised hope that rational therapeutic strategies will be developed.
弗里德赖希共济失调是一种常染色体隐性神经退行性疾病，是最常见的遗传性共济失调。最近发现了在此病症中发生突变的基因FRDA，这使得对弗里德赖希共济失调发病机制的理解有了迅速进展。约98%的突变等位基因在该基因的第1内含子中有GAA三核苷酸重复序列的扩增。这导致了铁调素水平降低。越来越多的证据表明，弗里德赖希共济失调是线粒体中铁蓄积导致自由基过量产生的结果，进而导致细胞损伤和死亡。目前尚无已知的治疗方法能改变该疾病的自然病程。FRDA基因及其可能功能的发现带来了开发合理治疗策略的希望。
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