Friedreich's ataxia causes: Difference between revisions
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==Causes== | ==Causes== | ||
===Genetic Causes=== | ===Genetic Causes=== | ||
*It is understood that Friedreich’s ataxia is the result of a [[homozygous]] [[guanine]]-[[adenine]]-[[adenine]] (GAA) [[Trinucleotide repeat expansion disorders|trinucleotide repeat expansion]] on chromosome 9q13 that causes a transcriptional defect of the [[frataxin]] gene.<ref name=" | *It is understood that Friedreich’s ataxia is the result of a [[homozygous]] [[guanine]]-[[adenine]]-[[adenine]] (GAA) [[Trinucleotide repeat expansion disorders|trinucleotide repeat expansion]] on chromosome 9q13 that causes a transcriptional defect of the [[frataxin]] gene.<ref name="pmid21315377">{{cite journal |vauthors=Koeppen AH |title=Friedreich's ataxia: pathology, pathogenesis, and molecular genetics |journal=J. Neurol. Sci. |volume=303 |issue=1-2 |pages=1–12 |date=April 2011 |pmid=21315377 |pmc=3062632 |doi=10.1016/j.jns.2011.01.010 |url=}}</ref> | ||
*[[Frataxin]] is a small mitochondrial protein and deficiency of [[frataxin]] is responsible for all clinical and morphological manifestations of Friedreich’s ataxia.<ref name="pmid4783034">{{cite journal |vauthors=Frankel VH |title=Biomechanics of the musculoskeletal system. Introduction |journal=Arch Surg |volume=107 |issue=3 |pages=405 |date=September 1973 |pmid=4783034 |doi= |url=}}</ref> | *[[Frataxin]] is a small mitochondrial protein and deficiency of [[frataxin]] is responsible for all clinical and morphological manifestations of Friedreich’s ataxia.<ref name="pmid4783034">{{cite journal |vauthors=Frankel VH |title=Biomechanics of the musculoskeletal system. Introduction |journal=Arch Surg |volume=107 |issue=3 |pages=405 |date=September 1973 |pmid=4783034 |doi= |url=}}</ref> | ||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] ; Associate Editor(s)-in-Chief: Mohamadmostafa Jahansouz M.D.[[Mailto:mjahanso@bidmc.harvard.edu|[2]]]
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
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
- ↑ 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.