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.
Preview |
Text
Giunti_9781138336087c37_editedRA_AB PG (1).pdf Download (484kB) | Preview |
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.
Archive Staff Only
 |
View Item |
