Described in 1881 by the German neurologist Nicolas Friedreich, Friedreich's Ataxia is a progressing neurological disease.


It is the most frequent of the hereditaryAtaxias and it affects approximately 1 person out of 30'000.


This disease with autosomic recessive transmission,begins generally either in childhood, adolescence or young adulthood. Clinical symptoms associate cerebellous ataxia, pyramidal syndrome with Babinski sign , abolition of reflexes, disorder of profound sensitivity, dysarthria, oculomotor disorders and cardiomyopathy
Other signs are inconstant, such as the presence of hollow feet, scoliosis, decrease of the auditive acuteness or diabetes.


This disease has a severe evolution, with loss of autonomy, requiring the use of a wheel chair.
Until now, no treatment has shown efficacy.
The assumption of responsibility of the patients limits itself to monitoring and functional rehabilitation.


The genetic studies, undertaken since the end of 1980, have lead to discovery in 1996 of the Friedreich's ataxia gene.

Normal
chromosome
Chromosome with the Ataxia gene
 
Normal person Person with Friedreich's Ataxia
 
                  Healthy carrier that transmit the FA gene
without being ill
 
 
 

After having been identified on the long arm of chromosome 9, the gene responsible for this disease has recently been identified by the team of Michel Koenig.  
Indeed, we know now that it codes for the frataxine,a 216 amino acids protein, contained in mitochondrion

Following the decrease in the expression of this protein among patients, the researchers came to the conclusion that they were in the presence of a disease caused by loss of function of the frataxine




Recently, a team of French researchers identified the functional anomaly responsible for the disease among patients affected by Friedreich Ataxia, a deficit of the mitochondrial respiratory chain, due to an attack by free radicals


Indeed, there is an iron overload in the mitochondria, that generates highly toxic oxygenated radicals for the respiratory chain.


The mitochondria presents several defense systems, of which the ubiquinone (Coenzyme Q10), which is one of the components of the respiratory chain and which has a significant antioxidant function acting upon membrane proteins.
While using Idébénone, which has a short chain and hence is almost identical to the ubiquinone, one obtains an efficient protection against the free radicals , generated by the iron overload. (It seems that quinones ensure protection regarding the heart and the brain of patients.)


These antioxidant agents represent a new hope of treating Friedreich's Ataxia and there is, at the present moment, a study testing their efficiency on a group of patients.

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