Friedreich ataxia in a family from Mali, West Africa/Friedreich ataxia in a Malian family

Clin Case Rep. 2021 Mar 24;9(5):e04065. doi: 10.1002/ccr3.4065. eCollection 2021 May.

Abstract

Friedreich ataxia is the most common inherited ataxia in the world, but yet to be reported in black African. We report the first genetically confirmed case in a West African family. Studying genetic diseases in populations with diverse backgrounds may give new insights into their pathophysiology for future therapeutic targets.

Keywords: FXN gene; Friedreich ataxia; Mali; West Africa; genetic epidemiology.

Publication types

  • Case Reports