Spinal cord damage in Friedreich's ataxia: Results from ENIGMA-Ataxia

Thiago JR Rezende, Isaac M Adanyeguh, Filippo Arrigoni, Benjamin Bender, Fernando Cendes, Louise A Corben, Andreas Deistung, Martin Delatycki, Imis Dogan, Gary Egan, Sophia L Goricke, Nellie Georgiou-Karistianis, Pierre-Gilles Henry, Diane Hutter, Neda Jahanshad, James M Joers, Christophe Lenglet, Tobias Lindig, Alberto RM Martinez, Andrea Martinuzzi, Gabriella Paparella, Denis Peruzzo, Kathrin Reetz, Sandro Romanzetti, Ludger Schols, Jorg B Schulz, Matthis Synofzik, Sophia I Thomopoulos, Paul M Thompson, Dagmar Timmann, Ian H Harding, Marcondes C Franca Jr.; medRxiv 2022.04.20.22273878; doi: 10.1101/2022.04.20.22273878

Interpretation: Previous research has shown that increased eccentricity reflects dorsal column (DC) damage, while decreased CSA reflects either DC or corticospinal tract (CST) damage or both. Hence, our data support the hypothesis that damage to DC and CST follow distinct courses in FRDA: developmental abnormalities likely define the DC, whereas CST alterations may be both developmental and degenerative. These results provide new insights about FRDA pathogenesis and indicate that CSA of the cervical spinal cord should be investigated further as a potential biomarker of disease progression.