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Friedreich’s Ataxia

Friedreich’s ataxia is a rare but relentless neurodegenerative disease which affects one individual in 50 000. Being recessive, this hereditary condition is carried by one individual in ca. 120. Although it was first diagnosed in 1863 by Nikolaus Friedreich, it was only in 1996 that the genetic cause became clear: it is due to anomalous expansion of a nucleotide triplet in the first exon of the FRDA gene, which leads to partial silencing of the frataxin protein. When these findings were first published, nothing was known about the cellular localization, evolution and function of frataxin. We now know that frataxin is an essential mitochondrial protein that is highly conserved in most organisms and is implicated in the regulation of iron–sulfur cluster formation. Here, we review the long path that has led us to our current understanding of the molecular causes of this ataxia.

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24 Jul 2013
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