Sudomotor dysfunction is frequent and correlates with disability in Friedreich ataxia

Friedreich ataxia (FRDA) is considered the most prevalent autosomal recessive ataxia worldwide with estimated prevalence of 3/100,000. The disease is common in Caucasian populations, but practically absent in sub-saharan regions and in the Far East. In 95% of the cases, the underlying cause is a homozygous expansion of a (GAA) repeat in intron 1 of FXN at 9q21.1 (Koeppen, 2011; Durr et al, 1996; Campuzano et al, 1996; Fogel and Perlman, 2007). This leads to a transcriptional abnormality that results in the lack of frataxin, a mitochondrial protein related to iron homeostasis (Campuzano et al, 1997).

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