Friedreich's ataxia historical perspective: Difference between revisions
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==Historical Perspective== | ==Historical Perspective== | ||
===Discovery=== | ===Discovery=== | ||
*Friedreich’s ataxia was first discovered by Nikolaus Friedreich, a German [[pathologist]] and [[neurologist]], in 1863. | *Friedreich’s ataxia was first discovered by Nikolaus Friedreich, a German [[pathologist]] and [[neurologist]], in 1863.<ref name="pmid3117664">{{cite journal |vauthors=Nakagawa R, Iida T, Takenaka S, Fukamachi K, Mori A, Takahashi K, Asahi M |title=[PCBs in human blood and adipose tissue: levels and similarities on gas chromatograms] |language=Japanese |journal=Fukuoka Igaku Zasshi |volume=78 |issue=5 |pages=309–13 |date=May 1987 |pmid=3117664 |doi= |url=}}</ref> | ||
*The association between hereditary inheritance and Friedreich’s ataxia was made first time by Nikolaus Friedreich.<ref name="pmid3117664">{{cite journal |vauthors=Nakagawa R, Iida T, Takenaka S, Fukamachi K, Mori A, Takahashi K, Asahi M |title=[PCBs in human blood and adipose tissue: levels and similarities on gas chromatograms] |language=Japanese |journal=Fukuoka Igaku Zasshi |volume=78 |issue=5 |pages=309–13 |date=May 1987 |pmid=3117664 |doi= |url=}}</ref> | |||
*In 1996, the association between a GAA repeat expansion on [[chromosome 9]] and the development of Friedreich's ataxia was discovered for the first time.<ref name="pmid8596916">{{cite journal |vauthors=Campuzano V, Montermini L, Moltò MD, Pianese L, Cossée M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, Zara F, Cañizares J, Koutnikova H, Bidichandani SI, Gellera C, Brice A, Trouillas P, De Michele G, Filla A, De Frutos R, Palau F, Patel PI, Di Donato S, Mandel JL, Cocozza S, Koenig M, Pandolfo M |title=Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion |journal=Science |volume=271 |issue=5254 |pages=1423–7 |date=March 1996 |pmid=8596916 |doi= |url=}}</ref> | |||
===Famous Cases=== | ===Famous Cases=== | ||
*Geraint Williams: He is known for scaling Mount Kilimanjaro in an adaptive wheelchair known as a Mountain Trike. | *Geraint Williams: He is known for scaling Mount Kilimanjaro in an adaptive wheelchair known as a Mountain Trike. | ||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
Revision as of 17:31, 18 April 2019
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] ; Associate Editor(s)-in-Chief: Mohamadmostafa Jahansouz M.D.[[2]]
Overview
Historical Perspective
Discovery
- Friedreich’s ataxia was first discovered by Nikolaus Friedreich, a German pathologist and neurologist, in 1863.[1]
- The association between hereditary inheritance and Friedreich’s ataxia was made first time by Nikolaus Friedreich.[1]
- In 1996, the association between a GAA repeat expansion on chromosome 9 and the development of Friedreich's ataxia was discovered for the first time.[2]
Famous Cases
- Geraint Williams: He is known for scaling Mount Kilimanjaro in an adaptive wheelchair known as a Mountain Trike.
References
- ↑ 1.0 1.1 Nakagawa R, Iida T, Takenaka S, Fukamachi K, Mori A, Takahashi K, Asahi M (May 1987). "[PCBs in human blood and adipose tissue: levels and similarities on gas chromatograms]". Fukuoka Igaku Zasshi (in Japanese). 78 (5): 309–13. PMID 3117664.
- ↑ Campuzano V, Montermini L, Moltò MD, Pianese L, Cossée M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, Zara F, Cañizares J, Koutnikova H, Bidichandani SI, Gellera C, Brice A, Trouillas P, De Michele G, Filla A, De Frutos R, Palau F, Patel PI, Di Donato S, Mandel JL, Cocozza S, Koenig M, Pandolfo M (March 1996). "Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion". Science. 271 (5254): 1423–7. PMID 8596916.