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.<ref name=" | *Friedreich’s ataxia was first discovered by Nikolaus Friedreich, a German [[pathologist]] and [[neurologist]], in 1863.<ref name="pmid23587934">{{cite journal |vauthors=Richardson TE, Kelly HN, Yu AE, Simpkins JW |title=Therapeutic strategies in Friedreich's ataxia |journal=Brain Res. |volume=1514 |issue= |pages=91–7 |date=June 2013 |pmid=23587934 |pmc=4461031 |doi=10.1016/j.brainres.2013.04.005 |url=}}</ref> | ||
*The association between hereditary inheritance and Friedreich’s ataxia was made first time by Nikolaus Friedreich.<ref name="pmid23587934">{{cite journal |vauthors=Richardson TE, Kelly HN, Yu AE, Simpkins JW |title=Therapeutic strategies in Friedreich's ataxia |journal=Brain Res. |volume=1514 |issue= |pages=91–7 |date=June 2013 |pmid=23587934 |pmc=4461031 |doi=10.1016/j.brainres.2013.04.005 |url=}}</ref> | |||
*The association between hereditary inheritance and Friedreich’s ataxia was made first time by Nikolaus Friedreich.<ref name=" | |||
*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> | *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 15:27, 23 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 Richardson TE, Kelly HN, Yu AE, Simpkins JW (June 2013). "Therapeutic strategies in Friedreich's ataxia". Brain Res. 1514: 91–7. doi:10.1016/j.brainres.2013.04.005. PMC 4461031. PMID 23587934.
- ↑ 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.