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Friedreich's ataxia

Friedreich's ataxia is an autosomal recessive congenital ataxia that occurs rarely in the human population. It is caused by a mutation in Gene X25 that codes for frataxin, located on chromosome 9. It is named after Nikolaus Friedreich, a German doctor who described the disease in 1863. more...

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Delatycki et al. (2000) provided an overview of the clinical features, pathology, molecular genetics, and possible therapeutic options in Friedreich ataxia.

Friedreich's ataxia and muscular dystrophy, though often compared, are completely different diseases. Muscular dystrophy is the result of muscle tissue degeneration whereas Friedreich's ataxia is the result of nervous tissue degeneration (a trinucleotide repeat disorder). Both are researched by the Muscular Dystrophy Association.

Symptoms

Symptoms begin sometime between the age of 5 to 15 years. The symptoms can include any combination, but not necessarily all of:

  • Muscle weakness in the arms and legs
  • Loss of coordination
  • Vision impairment
  • Hearing loss
  • Slurred speech
  • Curvature of the spine (scoliosis)
  • Carbohydrate intolerance
  • Extreme heart conditions (eg, atrial fibrillation, and resultant tachycardia (fast heart rate) and cardiomyopathy (enlargement of the heart))

These symptoms are slow and progressive. Long-term observation shows that many patient's reach a plateau in symptoms in the patient's early adulthood. Because of many of these symptoms, a person suffering from Friedrich's Ataxia may require some surgical interventions (mainly for the spine and heart).Often a metal rod is inserted in the spine to help prevent or slow the progression of scoliosis. As progression occurs, assistive devices such as a cane or walker or a wheelchair are required for mobility (independence).

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Friedreich's ataxia: disease mechanisms, antioxidant and coenzyme Q10 therapy
From Alternative Medicine Review, 3/1/04 by J.M. Cooper

Cooper JM, Schapira AH, Biofactors 2003;18:163-171.

Mitochondria clearly play a central role in the pathogenesis of Friedreich's ataxia. The most common genetic abnormality results in the deficiency of the protein frataxin, which is targeted to the mitochondrion. Research since this discovery has indicated that mitochondrial respiratory chain dysfunction, mitochondrial iron accumulation and oxidative damage are important components of the disease mechanism. While the role of frataxin is not known, evidence is currently pointing to a role in either mitochondrial iron handling or iron sulphur centre synthesis. These advances in our understanding of the disease mechanisms are enabling therapeutic avenues to be explored, in particular the use of established drags such as antioxidants and enhancers of respiratory chain function. Vitamin E therapy has been shown to be beneficial in patients with ataxia with vitamin E deficiency, and CoQ10 therapy was effective in some patients with ataxia associated with CoQ10 deficiency. A combined therapy involving long term treatment with high doses of vitamin E and coenzyme Q10 has jointly targeted two of the major features of Friedreich's ataxia; decreased mitochondrial respiratory chain function and increased oxidative stress. This therapy clearly showed a rapid and sustained increase in the energy generated by the FRDA heart muscle, nearly returning to normal levels. The improvements in skeletal muscle energy generation parallel those of the heart but to a lower level. While this therapy appeared to slow the predicted progression of some clinical symptoms a larger placebo controlled study is required to confirm these observations. Other antioxidant strategies have involved the use of idebenone, selenium and N acetyl cysteine but only the use of idebenone has involved structured trials with relatively large patient numbers. Idebenone clearly had an impact upon the cardiac hypertrophy in the majority of patients, although there have not been any other significant benefits reported to date.

COPYRIGHT 2004 Thorne Research Inc.
COPYRIGHT 2004 Gale Group

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