title: Clinical neurogenetics: friedreich ataxia.
abstract: Friedreich ataxia is the most common autosomal recessive ataxia. It is a progressive neurodegenerative disorder, typically with onset before 20 years of age. Signs and symptoms include progressive ataxia, ascending weakness and ascending loss of vibration and joint position senses, pes cavus, scoliosis, cardiomyopathy, and arrhythmias. There are no disease-modifying medications to either slow or halt the progression of the disease, but research investigating therapies to increase endogenous frataxin production and decrease the downstream consequences of disrupted iron homeostasis is ongoing. Clinical trials of promising medications are underway, and the treatment era of Friedreich ataxia is beginning.
authors.affiliation: Pediatrics and Neurology, Children's Hospital Colorado, University of Colorado, Denver, School of Medicine, 13123 East 16th Avenue, B155, Aurora, CO 80045, USA. Electronic address: abigail.collins@ucdenver.edu.
authors.forename: Abigail
authors.initials: A
authors.lastname: Collins
mesh_terms: D005621:Friedreich Ataxia / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D006801:Humans; D033862:Iron-Binding Proteins / Q000235:genetics; D000096923:Frataxin
chemical_list: D033862:Iron-Binding Proteins; D000096923:Frataxin
keywords: Autosomal recessive; Friedreich ataxia; Mitochondria; Neurodegenerative disease; Triplet repeat expansion