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

Cheick A K CisséLassana CisséHamidou O BaOumar SamassékouAssiatou SimagaAbdoulaye TamégaSalimata DiarraSeybou H DialloThomas CoulibalySalimata DialloAbdoulaye YalcouyéAlassane B MaigaMohamed KeitaKenneth H FischbeckSékou F TraoréCheick O GuintoGuida Landourénull null

Published in: Clinical case reports (2021)

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.

Keyphrases

early onset
genome wide
gene expression
copy number
genetic diversity