Friedreich ataxia

Definition:

Friedreich ataxia is one of the most common forms of autosomal recessive ataxia caused by severely reduced levels of frataxin as a result of a large GAA triplet-repeat expansion within the first intron of the frataxin gene. Frataxin deficiency is thought to cause generation of reactive oxygen species, reactive nitrogen species and mitochondrial dysfunction.

References:

[1]. J Finsterer, et al. Central nervous system manifestations of mitochondrial disorders. Acta Neurol Scand. 2006 Oct;114(4):217-38. [Content Brief]

[2]. Jennifer Q Kwong, et al. The role of mitochondria in inherited neurodegenerative diseases. J Neurochem. 2006 Jun;97(6):1659-75. [Content Brief]

[3]. Massimo Pandolfo, et al. Friedreich ataxia. Arch Neurol. 2008 Oct;65(10):1296-303. [Content Brief]

[4]. Ngolela E Babady, et al. Advancements in the pathophysiology of Friedreich's Ataxia and new prospects for treatments. Mol Genet Metab. 2007 Sep-Oct;92(1-2):23-35. [Content Brief]

[5]. Vittorio Calabrese, et al. Oxidative stress, mitochondrial dysfunction and cellular stress response in Friedreich's ataxia. J Neurol Sci. 2005 Jun 15;233(1-2):145-62. [Content Brief]

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