Friedreich's ataxia historical perspective

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] ; Associate Editor(s)-in-Chief: Mohamadmostafa Jahansouz M.D.

Overview

Friedreich’s ataxia was first discovered by Nikolaus Friedreich, a German pathologist and neurologist, in 1863. The association between hereditary inheritance and Friedreich’s ataxia was made first time by Nikolaus Friedreich. 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. Geraint Williams who had Friedreich’s ataxia is known for scaling Mount Kilimanjaro in an adaptive wheelchair known as a Mountain Trike.

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.

[pmid23587934-1] 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.

[pmid8596916-2] 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.

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