title: Unanswered questions in Friedreich ataxia.
abstract: During the past 15 years, the pace of research advancement in Friedreich ataxia has been rapid. The abnormal gene has been discovered and its gene product characterized, leading to the development of new evidence-based therapies. Still, various unsettled issues remain that affect clinical trials. These include the level of frataxin deficiency needed to cause disease, the mechanism by which frataxin-deficient mitochondrial dysfunction leads to symptomatology, and the reason selected cells are most affected in Friedreich ataxia. In this review, we summarize these questions and propose testable hypotheses for their resolution.
authors: Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. lynchd@mail.med.upenn.edu
authors: David R
authors: DR
authors: Lynch
authors: Eric C
authors: EC
authors: Deutsch
authors: Robert B
authors: RB
authors: Wilson
authors: Gihan
authors: G
authors: Tennekoon
mesh_terms: D005621:Friedreich Ataxia / Q000209:etiology* / Q000235:genetics* / Q000473:pathology; D006801:Humans; D033862:Iron-Binding Proteins / Q000235:genetics / Q000378:metabolism*; D009474:Neurons / Q000378:metabolism; D017382:Reactive Oxygen Species / Q000378:metabolism; D000096923:Frataxin
chemical_list: D033862:Iron-Binding Proteins; D017382:Reactive Oxygen Species; D000096923:Frataxin