Mitochondrial Dysfunction in Friedreich Ataxia

Authored by: Rosella Abeti , Annalisa Baccaro , Paola Giunti

Handbook of Mitochondrial Dysfunction

Print publication date:  June  2019
Online publication date:  May  2019

Print ISBN: 9781138336087
eBook ISBN: 9780429443336
Adobe ISBN:


 Download Chapter



Friedreich’s Ataxia (FRDA) is the commonest hereditary form of ataxia affecting the Western European population. FRDA is an autosomal recessive neurodegenerative disorder caused by an intronic GAA repeat expansion within the FXN gene; the 96% of the patients are homozygous, while the remaining 4% are compound heterozygous carrying the GAA repeat mutation on one allele and point mutations on the other one. FRDA first symptoms appear at young age during the firsts two decades of life. The clinical features include progressive gait and limb ataxia, dysarthria, muscle weakness, peripheral sensory neuropathy, pes cavus, and scoliosis. FRDA is a multi-systemic disorder; therefore, patients develop non-neurological signs, such as hypertrophic cardiomyopathy, diabetes, and urological problems.

Search for more...
Back to top

Use of cookies on this website

We are using cookies to provide statistics that help us give you the best experience of our site. You can find out more in our Privacy Policy. By continuing to use the site you are agreeing to our use of cookies.