Thiago Junqueira Ribeiro Rezende, Isaac Adanyaguh, Orlando G P Barsottini, Benjamin Bender, Fernando Cendes, Leo Coutinho, Andreas Deistung, Imis Dogan, Alexandra Durr, Juan Fernandez-Ruiz, Sophia L Göricke, Marina Grisoli, Carlos R Hernandez-Castillo, Christophe Lenglet, Caterina Mariotti, Alberto R M Martinez, Breno K Massuyama, Fanny Mochel, Lorenzo Nanetti, Anna Nigri, Sergio E Ono, Gülin Öz, José Luiz Pedroso, Kathrin Reetz, Matthis Synofzik, Helio Teive, Sophia I Thomopoulos, Paul M Thompson, Dagmar Timmann, Bart P C van de Warrenburg, Judith van Gaalen, Marcondes C França, Ian H Harding
BACKGROUND: Spinal cord damage is a feature of many spinocerebellar ataxias (SCAs), but well-powered in vivo studies are lacking and links with disease severity and progression remain unclear. Here we characterise cervical spinal cord morphometric abnormalities in SCA1, SCA2, SCA3 and SCA6 using a large multisite MRI dataset. METHODS: Upper spinal cord (vertebrae C1-C4) cross-sectional area (CSA) and eccentricity (flattening) were assessed using MRI data from nine sites within the ENIGMA-Ataxia consortium, including 364 people with ataxic SCA, 56 individuals with preataxic SCA and 394 nonataxic controls...
February 21, 2024: Journal of Neurology, Neurosurgery, and Psychiatry