Genotype-specific spinal cord damage in spinocerebellar ataxias: an ENIGMA-Ataxia study.
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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
Аннотация
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. Correlations and subgroup analyses within the SCA cohorts were undertaken based on disease duration and ataxia severity.
RESULTS: Individuals in the ataxic stage of SCA1, SCA2 and SCA3, relative to non-ataxic controls, had significantly reduced CSA and increased eccentricity at all examined levels. CSA showed large effect sizes (d>2.0) and correlated with ataxia severity (r<-0.43) and disease duration (r<-0.21). Eccentricity correlated only with ataxia severity in SCA2 (r=0.28). No significant spinal cord differences were evident in SCA6. In preataxic individuals, CSA was significantly reduced in SCA2 (d=1.6) and SCA3 (d=1.7), and the SCA2 group also showed increased eccentricity (d=1.1) relative to nonataxic controls. Subgroup analyses confirmed that CSA and eccentricity are abnormal in early disease stages in SCA1, SCA2 and SCA3. CSA declined with disease progression in all, whereas eccentricity progressed only in SCA2.
CONCLUSIONS: Spinal cord abnormalities are an early and progressive feature of SCA1, SCA2 and SCA3, but not SCA6, which can be captured using quantitative MRI.