Anglia Ruskin Research Online (ARRO)
Browse
Thomas-Black_2022.pdf (1.01 MB)

Multimodal Analysis of the Visual Pathways in Friedreich's Ataxia Reveals Novel Biomarkers

Download (1.01 MB)
journal contribution
posted on 2023-07-26, 16:04 authored by Gilbert Thomas‐Black, Daniel R. Altmann, Harry Crook, Nita Solanky, Ferran Prados Carrasco, Marco Battiston, Francesco Grussu, Marios C. Yiannakas, Baris Kanber, Jasleen K. Jolly, Jon Brett, Susan M. Downes, Marni Moran, Ping K. Chan, Emmanuel Adewunmi, Claudia A.M. Gandini Wheeler‐Kingshott, Andrea H. Németh, Richard Festenstien, Fion Bremner, Paola Giunti
Background: Optic neuropathy is a near ubiquitous feature of Friedreich's ataxia (FRDA). Previous studies have examined varying aspects of the anterior and posterior visual pathways but none so far have comprehensively evaluated the heterogeneity of degeneration across different areas of the retina, changes to the macula layers and combined these with volumetric MRI studies of the visual cortex and frataxin level. Methods: We investigated 62 genetically confirmed FRDA patients using an integrated approach as part of an observational cohort study. We included measurement of frataxin protein levels, clinical evaluation of visual and neurological function, optical coherence tomography to determine retinal nerve fibre layer thickness and macular layer volume and volumetric brain MRI. Results: We demonstrate that frataxin level correlates with peripapillary retinal nerve fibre layer thickness and that retinal sectors differ in their degree of degeneration. We also shown that retinal nerve fibre layer is thinner in FRDA patients than controls and that this thinning is influenced by the AAO and GAA1. Furthermore we show that the ganglion cell and inner plexiform layers are affected in FRDA. Our MRI data indicate that there are borderline correlations between retinal layers and areas of the cortex involved in visual processing. Conclusion: 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

History

Refereed

  • Yes

Publication title

Movement Disorders

ISSN

0885-3185

Publisher

Wiley

File version

  • Published version

Language

  • eng

Legacy posted date

2022-11-28

Legacy creation date

2022-11-28

Legacy Faculty/School/Department

Faculty of Health, Education, Medicine & Social Care

Usage metrics

    ARU Outputs

    Categories

    No categories selected

    Keywords

    Licence

    Exports

    RefWorks
    BibTeX
    Ref. manager
    Endnote
    DataCite
    NLM
    DC