Friedreich ataxia

Arch Neurol. 2008 Oct;65(10):1296-303. doi: 10.1001/archneur.65.10.1296.


Friedreich ataxia is an autosomal recessive degenerative disease that primarily affects the nervous system and the heart. It is named after its original description as a "degenerative atrophy of the posterior columns of the spinal cord" by Nicholaus Friedreich, who was a professor of medicine in Heidelberg in the second half of the 19th century. The full extent of the Friedreich ataxia phenotype and its genetic epidemiology could only be appreciated after a direct genetic test became available in 1996. At the same time, the complex pathogenesis of Friedreich ataxia started to be unraveled. Herein, I review our current knowledge of the disease and how it is contributing to the development of therapeutic approaches.

Publication types

  • Review

MeSH terms

  • Afferent Pathways / pathology
  • Afferent Pathways / physiopathology
  • Central Nervous System / pathology
  • Central Nervous System / physiopathology*
  • Cerebellum / pathology
  • Cerebellum / physiopathology
  • Disease Progression
  • Friedreich Ataxia / genetics*
  • Friedreich Ataxia / pathology
  • Friedreich Ataxia / physiopathology*
  • Gait Disorders, Neurologic / genetics
  • Gait Disorders, Neurologic / pathology
  • Gait Disorders, Neurologic / physiopathology
  • Genetic Predisposition to Disease / genetics*
  • Heart Diseases / genetics
  • Humans
  • Mitochondrial Diseases / genetics
  • Mitochondrial Diseases / pathology
  • Mitochondrial Diseases / physiopathology
  • Spinal Cord / pathology
  • Spinal Cord / physiopathology