Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Friedreich's ataxia causes
Introduction
Overview
Overview
It is understood that Friedreich’s ataxia is the result of a homozygous guanine–adenine–adenine (GAA) trinucleotide repeat expansion on chromosome 9q13 that causes a transcriptional defect of the frataxin gene. Frataxin is a small mitochondrial protein and deficiency of frataxin is responsible for all clinical and morphological manifestations of Friedreich’s ataxia.
Causes
Causes
Genetic Causes
- It is understood that Friedreich’s ataxia is the result of a homozygous guanine–adenine–adenine (GAA) trinucleotide repeat expansion on chromosome 9q13 that causes a transcriptional defect of the frataxin gene.[1]
- Frataxin is a small mitochondrial protein and deficiency of frataxin is responsible for all clinical and morphological manifestations of Friedreich’s ataxia.[2]
References
References
- ↑ Koeppen AH (April 2011). “Friedreich’s ataxia: pathology, pathogenesis, and molecular genetics”. J. Neurol. Sci. 303 (1–2): 1–12. doi:10.1016/j.jns.2011.01.010. PMC 3062632. PMID 21315377.
- ↑ Frankel VH (September 1973). “Biomechanics of the musculoskeletal system. Introduction”. Arch Surg. 107 (3): 405. PMID 4783034.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Â ; Associate Editor(s)-in-Chief: Syed Musadiq Ali M.B.B.S.[2], Mohamadmostafa Jahansouz M.D