Friedreich's ataxia historical perspective
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] ; Associate Editor(s)-in-Chief:
Overview
Historical Perspective
Discovery
- 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.
Famous Cases
- Geraint Williams: He is known for scaling Mount Kilimanjaro in an adaptive wheelchair known as a Mountain Trike.