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The Molecular Basis of Friedreich Ataxia

  • Massimo Pandolfo
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 516)

Abstract

Friedreich ataxia (FRDA) is the most common of the early-onset hereditary ataxias in Indo-European and North African populations. The disease was first described in 1863 by Nicholaus Friedreich, Professor of Medicine in Heidelberg. Friedreich’s papers reported the essential clinical and pathological features of the disease, a “degenerative atrophy of the posterior columns of the spinal cord” leading to progressive ataxia, sensory loss and muscle weakness, often associated with scoliosis, foot deformity and heart disease. However, the subsequent description of atypical cases and of clinically similar diseases clouded classification for many years. Diagnostic criteria were established in the late 1970s, after a renewed interest in the disease prompted several rigorous clinical studies. The Quebec Collaborative Group described the typical features of the disease in well-established cases.1 Harding modified some of the Québec Collaborative Group diagnostic criteria to include cases at an early stage of the disease.2 According to Harding, essential clinical features include:
  1. i)

    autosomal recessive inheritance

     
  2. ii)

    onset before 25 years of age

     
  3. iii)

    progressive limb and gait ataxia

     
  4. iv)

    absent tendon reflexes in the legs

     
  5. v)

    electrophysiologic evidence of axonal sensory neuropathy, followed within five years of onset by: dysarrhria, areflexia at all four limbs, distal loss of position and vibration sense, extensor plantar responses and pyramidal weakness of the legs

     

Keywords

Friedreich Ataxia Mitochondrial Iron Frataxin Gene Cytosolic Iron Frataxin Deficiency 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer Science+Business Media New York 2002

Authors and Affiliations

  • Massimo Pandolfo
    • 1
  1. 1.Centre Hospitalier de lé Université de MontréalHopital Notre-Dame,MontréalCanada

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