Journal article
Progressive Spinal Cord Degeneration in Friedreich's Ataxia: Results from ENIGMA-Ataxia
TJR Rezende, IM Adanyeguh, F Arrigoni, B Bender, F Cendes, LA Corben, A Deistung, M Delatycki, I Dogan, GF Egan, SL Göricke, N Georgiou-Karistianis, PG Henry, D Hutter, N Jahanshad, JM Joers, C Lenglet, T Lindig, ARM Martinez, A Martinuzzi Show all
Movement Disorders | Published : 2023
DOI: 10.1002/mds.29261
Abstract
Background: Spinal cord damage is a hallmark of Friedreich's ataxia (FRDA), but its progression and clinical correlates remain unclear. Objective: The objective of this study was to perform a characterization of cervical spinal cord structural damage in a large multisite FRDA cohort. Methods: We performed a cross-sectional analysis of cervical spinal cord (C1–C4) cross-sectional area (CSA) and eccentricity using magnetic resonance imaging data from eight sites within the ENIGMA-Ataxia initiative, including 256 individuals with FRDA and 223 age- and sex-matched control subjects. Correlations and subgroup analyses within the FRDA cohort were undertaken based on disease duration, ataxia severit..
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Awarded by Ataxia UK
Funding Acknowledgements
The methods of harmonization and multisite data analysis elements of this work were supported by National Institutes of Health (NIH) Big Data to Knowledge (BD2K) program grant U54 EB020403 and grants from the Australian National Health and Medical Research Council (Fellowship 1106533, Grant 1184403). FARA (Friedreich's Ataxia Research Alliance, grant 92133) and FAPESP (Sao Paulo Research Foundation) also supported this study through CEPID/BRAINN (grant 2013/07559-3), the German Research Foundation (DFG; DE 2516/1-1 and TI 239/17-1), and the European Joint Programme on Rare Diseases, under the EJP RD COFUND-EJP No 825575 as part of the PROSPAX consortium (to M.S. and D.T. via DFG). Center for Magnetic Resonance Research (CMRR) at the University of Minnesota was supported by NIH grants P41 EB027061 and P30 NS076408. P.-G.H. and C.L. also acknowledge support by grants from the FARA, GoFAR, Ataxia UK, and the Bob Allison Ataxia Research Center. The funding agencies did not interfere with the design of the study, collection of data, or drafting of the manuscript.