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Mitochondrial Dysfunction in Friedreich Ataxia

Abeti, R; Baccaro, A; Giunti, P; (2019) Mitochondrial Dysfunction in Friedreich Ataxia. In: Ahmad, SI, (ed.) Handbook of Mitochondrial Dysfunction. CRC Press: Boca Raton, FL, USA. Green open access

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Abstract

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.

Type: Book chapter
Title: Mitochondrial Dysfunction in Friedreich Ataxia
ISBN-13: 9781138336087
Open access status: An open access version is available from UCL Discovery
DOI: 10.1201/9780429443336-37
Publisher version: https://doi.org/10.1201/9780429443336-37
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute > Research Department of Haematology
URI: https://discovery.ucl.ac.uk/id/eprint/10087312
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