par Pandolfo, Massimo 
Référence Archives of neurology, 65, 10, page (1296-1303)
Publication Publié, 2008-10
Référence Archives of neurology, 65, 10, page (1296-1303)
Publication Publié, 2008-10
Article révisé par les pairs
| Résumé : | 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. |
