par Depondt, Chantal ;Donatello, Simona ;Simonis, Nicolas ;Rai, Myriam ;Van Heurck, Roxane ;Abramowicz, Marc ;D'Hooghe, Marc;Pandolfo, Massimo
Référence Neurology
Publication Publié, 2014-04
Référence Neurology
Publication Publié, 2014-04
Article révisé par les pairs
Résumé : | Autosomal recessive ataxias affect about 1 person in 20,000. Friedreich ataxia accounts for one-third of the cases in Caucasians; the others are due to a growing list of very rare molecular defects, including mild forms of metabolic diseases. In nearly 50%, the genetic cause remains undetermined.(1.) |