Friedreich ataxia.
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.
Service de Neurologie, Erasme Hospital, Brussels Free University, Route de Lennik 808, B-1070, Brussels, Belgium. massimo.pandolfo@ulb.ac.be
Massimo
M
Pandolfo
D000344:Afferent Pathways / Q000473:pathology / Q000503:physiopathology; D002490:Central Nervous System / Q000473:pathology / Q000503:physiopathology*; D002531:Cerebellum / Q000473:pathology / Q000503:physiopathology; D018450:Disease Progression; D005621:Friedreich Ataxia / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D020233:Gait Disorders, Neurologic / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006331:Heart Diseases / Q000235:genetics; D006801:Humans; D028361:Mitochondrial Diseases / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D013116:Spinal Cord / Q000473:pathology / Q000503:physiopathology