Multimodal Analysis of the Visual Pathways in Friedreich's Ataxia Reveals Novel Biomarkers.
Gilbert Thomas-BlackDaniel R AltmannHarry CrookNita SolankyFerran Prados CarrascoMarco BattistonFrancesco GrussuMarios C YiannakasBaris KanberJasleen K JollyJon BrettSusan M DownesMarni MoranPing K ChanEmmanuel AdewunmiClaudia A M Gandini Wheeler-KingshottAndrea H NémethRichard FestensteinFion BremnerPaola GiuntiPublished in: Movement disorders : official journal of the Movement Disorder Society (2022)
Our study demonstrates the uneven distribution of the axonopathy in the retinal nerve fibre layer and highlight the relative sparing of the papillomacular bundle and temporal sectors. We show that thinning of the retinal nerve fibre layer is associated with frataxin levels, supporting the use the two biomarkers in future clinical trials design. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.