Article
Genotype-specific spinal cord damage in spinocerebellar ataxias: an ENIGMA-Ataxia study.
Journal of neurology, neurosurgery, and psychiatry - 17 Jun 2024
Rezende Thiago Junqueira Ribeiro, Adanyaguh Isaac, Barsottini Orlando G P, Bender Benjamin, Cendes Fernando, Coutinho Leo, Deistung Andreas, Dogan Imis, Durr Alexandra, Fernandez-Ruiz Juan, Göricke Sophia L, Grisoli Marina, Hernandez-Castillo Carlos R, Lenglet Christophe, Mariotti Caterina, Martinez Alberto R M, Massuyama Breno K, Mochel Fanny, Nanetti Lorenzo, Nigri Anna, Ono Sergio E, Öz Gülin, Pedroso José Luiz, Reetz Kathrin, Synofzik Matthis, Teive Helio, Thomopoulos Sophia I, Thompson Paul M, Timmann Dagmar, van de Warrenburg Bart P C, van Gaalen Judith, França Marcondes C, Harding Ian H
Abstract excerpt
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...
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