We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Childhood Ataxia: Clinical Features, Pathogenesis, Key Unanswered Questions, and Future Directions.
- Authors
Ashley, Claire N.; Hoang, Kelly D.; Lynch, David R.; Perlman, Susan L.; Maria, Bernard L.
- Abstract
Childhood ataxia is characterized by impaired balance and coordination primarily because of cerebellar dysfunction. Friedreich ataxia, a form of childhood ataxia, is the most common multisystem autosomal recessive disease. Most of these patients are homozygous for the GAA repeat expansion located on the first intron of the frataxin gene on chromosome 9. Mutations in the frataxin gene impair mitochondrial function, increase reactive oxygen species, and trigger redistribution of iron in the mitochondria and cytosol. Targeted therapies for Friedreich ataxia are undergoing testing. In addition, a centralized database, patient registry, and natural history study have been launched to support clinical trials in Friedreich ataxia. The 2011 Neurobiology of Disease in Children symposium, held in conjunction with the 40th annual Child Neurology Society meeting, aimed to (1) describe clinical features surrounding Friedreich ataxia, including cardiomyopathy and genetics; (2) discuss recent advances in the understanding of the pathogenesis of Friedreich ataxia and developments of clinical trials; (3) review new investigations of characteristic symptoms; and (4) establish clinical and biochemical overlaps in neurodegenerative diseases and possible directions for future basic, translational, and clinical studies.
- Subjects
ATAXIA; FRIEDREICH'S ataxia; NEUROBIOLOGY; CYTOSOL; REACTIVE oxygen species; CEREBELLAR ataxia; PATIENTS; CONFERENCES &; conventions
- Publication
Journal of Child Neurology, 2012, Vol 27, Issue 9, p1095
- ISSN
0883-0738
- Publication type
Article
- DOI
10.1177/0883073812448840