Progressive Spinal Cord Degeneration in Friedreich's Ataxia: Results from ENIGMA-Ataxia

Thiago J.R. Rezende PhD, Isaac M. Adanyeguh PhD, Filippo Arrigoni MD, Benjamin Bender MD, Fernando Cendes MD, PhD, Louise A. Corben PhD, Andreas Deistung PhD, Martin Delatycki PhD, Imis Dogan PhD, Gary F. Egan PhD, Sophia L. Göricke MD, Nellie Georgiou-Karistianis PhD, Pierre-Gilles Henry PhD, Diane Hutter RN, Neda Jahanshad PhD, James M. Joers PhD, Christophe Lenglet PhD, Tobias Lindig MD, Alberto R.M. Martinez MD, PhD, Andrea Martinuzzi MD, PhD, Gabriella Paparella MD, Denis Peruzzo PhD, Kathrin Reetz MD, Sandro Romanzetti PhD, Ludger Schöls, Jörg B. Schulz MD, Matthis Synofzik MD, Sophia I. Thomopoulos BA, Paul M. Thompson PhD, Dagmar Timmann MD, Ian H. Harding PhD, Marcondes C. França Jr MD, PhD; (2022), Mov Disord. doi:10.1002/mds.29261 

The objective of this study was to perform a characterization of cervical spinal cord structural damage in a large multisite FRDA cohort. 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 the DC and damage to CST follow distinct courses in FRDA: developmental abnormalities likely define the DC, while 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.