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.

References