Cerebellar Volumetry in Ataxias: Relation to Ataxia Severity and Duration

Klockgether T, Mariotti C, Paulson H. Spinocerebellar Ataxia. Nat Rev Dis Prim. 2016;5(1). https://doi.org/10.1038/s41572-019-0074-3.

Gilman S, Wenning G, Low P, Brooks D, Mathias C, Trojanowski J, et al. Second consensus statement on the diagnosis of multiple system atrophy. Neurology. 2008;71(9):670–6. https://doi.org/10.1212/01.wnl.0000324625.00404.15.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Wenning G, Stankovic I, Vignatelli L, Fanciulli A, Calandra-Buonaura G, Seppi K, et al. Rhe movement disorder society criteria for the diagnosis of multiple system atrophy. Mov Disord. 2022;37(6):1131–48. https://doi.org/10.1002/mds.29005.

Article  PubMed  PubMed Central  Google Scholar 

Rentiya Z, Hutnik R, Mekkam Y, Bae J. The pathophysiology and clinical manifestations of spinocerebellar Ataxia type 6. Cerebellum. 2020;19(3):459–64. https://doi.org/10.1007/s12311-020-01120-y.

Article  PubMed  Google Scholar 

Hernandez-Castillo CR, King M, Diedrichsen J, Fernandez-Ruiz J. Unique degeneration signatures in the cerebellar cortex for spinocerebellar Ataxias 2, 3, and 7. NeuroImage Clin. 2018;20:931–8. https://doi.org/10.1016/j.nicl.2018.09.026.

Article  PubMed  PubMed Central  Google Scholar 

Reetz K, Costa AS, Mirzazade S, Lehmann A, Juzek A, Rakowicz M, et al. Genotype-specific patterns of Atrophy progression are more sensitive than clinical decline in SCA1, SCA3 and SCA6. Brain. 2013;136(Pt 3):905–17. https://doi.org/10.1093/brain/aws369.

Article  PubMed  Google Scholar 

Deistung A, Jäschke D, Draganova R, Pfaffenrot V, Hulst T, Steiner KM, et al. Quantitative susceptibility mapping reveals alterations of dentate nuclei in common types of degenerative cerebellar Ataxias. Brain Commun. 2022;4(1):fcab306. https://doi.org/10.1093/braincomms/fcab306.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Adanyeguh IM, Perlbarg V, Henry PG, Rinaldi D, Petit E, Valabregue R, et al. Autosomal dominant cerebellar Ataxias: imaging biomarkers with high effect sizes. NeuroImage: Clin. 2018;19:858–67. https://doi.org/10.1016/j.nicl.2018.06.011.

Article  PubMed  Google Scholar 

Chandrasekaran J, Petit E, Park YW, du Montcel ST, Joers JM, Deelchand DK, et al. Clinically meaningful magnetic resonance endpoints sensitive to Preataxic spinocerebellar Ataxia types 1 and 3. Ann Neurol. 2022. https://doi.org/10.1002/ana.26573.

Article  PubMed  Google Scholar 

Gitaí LLG, Sobreira-Neto MA, Diniz PRB, Éckeli AL, Fernandes RMF, Marques WJ, et al. Voxel-based morphometry and relaxometry demonstrate macro- and microstructural damages in spinocerebellar Ataxia type 3. Cerebellum. 2023;22(5):818–24. https://doi.org/10.1007/s12311-022-01452-x.

Article  CAS  PubMed  Google Scholar 

Della Nave R, Ginestroni A, Tessa C, Salvatore E, De Grandis D, Plasmati R, et al. Brain white matter damage in SCA1 and SCA2. An in vivo study using voxel-based morphometry, histogram analysis of mean diffusivity and tract-based spatial statistics. Neuroimage. 2008;43(1):10–19. Epub 2008 Jul 11. PMID: 18672073. https://doi.org/10.1016/j.neuroimage.2008.06.036.

Faber J, Kügler D, Bahrami E, Heinz LS, Timmann D, Ernst TM, et al. CerebNet: a fast and reliable deep-learning pipeline for detailed cerebellum sub-segmentation. Neuroimage. 2022;264:119703. https://doi.org/10.1016/j.neuroimage.2022.119703.

Article  PubMed  Google Scholar 

Schmitz-Hübsch T, du Montcel ST, Baliko L, Berciano J, Boesch S, Depondt C, et al. Scale for the assessment and rating of Ataxia: development of a new clinical scale. Neurology. 2006;66(11):1717–20.

Article  PubMed  Google Scholar 

Maas RPPWM, van Gaalen J, Klockgether T, van de Warrenburg BPC. The preclinical stage of spinocerebellar Ataxias. Neurology. 2015;85(1):96–103. https://doi.org/10.1212/WNL.0000000000001711.

Article  PubMed  Google Scholar 

Buckner RL, Head D, Parker J, Fotenos AF, Marcus D, Morris JC, et al. A unified approach for morphometric and functional data analysis in young, old, and demented adults using automated atlas-based head size normalization: reliability and validation against manual measurement of total intracranial volume. Neuroimage. 2004;23(2):724–38. https://doi.org/10.1016/j.neuroimage.2004.06.018.

Article  PubMed  Google Scholar 

Fortin JP, Parker D, Tunc B, Watanabe T, Elliott MA, Ruparel K, et al. Harmonization of multi-site diffusion tensor imaging data. NeuroImage. 2017;161:149–70. https://doi.org/10.1016/j.neuroimage.2017.08.047.

Article  PubMed  Google Scholar 

Fortin JP, Cullen N, Sheline YI, Taylor WD, Aselcioglu I, Cook PA, et al. Harmonization of cortical thickness measurements across scanners and sites. NeuroImage. 2018;167:104–20. https://doi.org/10.1016/j.neuroimage.2017.11.024.

Article  PubMed  Google Scholar 

Johnson WE, Li C. Adjusting batch effects in microarray expression data using empirical Bayes methods. Biostatistics. 2007;8(1):118–27. https://doi.org/10.1093/biostatistics/kxj037.

Article  PubMed  Google Scholar 

R Core Team. R: A language and environment for statistical computing. Vienna; 2023.

Faber J, Schaprian T, Berkan K, Reetz K, França MCJ, de Rezende TJR, et al. Regional brain and spinal cord volume loss in spinocerebellar Ataxia type 3. Mov Disord. 2021;36(10):2273–81. https://doi.org/10.1002/mds.28610.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Rezende TJR, de Paiva JLR, Martinez ARM, Lopes-Cendes I, Pedroso JL, Barsottini OGP, et al. Structural signature of SCA3: from presymptomatic to late disease stages. Ann Neurol. 2018;84(3):401–8. https://doi.org/10.1002/ana.25297.

Eichler L, Bellenberg B, Hahn HK, Köster O, Schöls L, Lukas C. Quantitative assessment of brain stem and cerebellar atrophy in spinocerebellar Ataxia types 3 and 6: impact on clinical status. AJNR Am J Neuroradiol. 2011;32(5):890–7. https://doi.org/10.3174/ajnr.A2387.

Arruda WO, Meira AT, Ono SE, de Carvalho Neto A, Betting LEGG, Raskin S, et al. Volumetric MRI changes in spinocerebellar Ataxia (SCA3 and SCA10) patients. Cerebellum. 2020;19(4):536–43. https://doi.org/10.1007/s12311-020-01137-3.

Article  PubMed  Google Scholar 

Schulz JB, Borkert J, Wolf S, Schmitz-Hübsch T, Rakowicz M, Mariotti C, et al. Visualization, quantification and correlation of brain atrophy with clinical symptoms in spinocerebellar Ataxia types 1, 3 and 6. NeuroImage. 2010;49(1):158–68. https://doi.org/10.1016/j.neuroimage.2009.07.027.

Article  PubMed  Google Scholar 

Lukas C, Schöls L, Bellenberg B, Rüb U, Przuntek H, Schmid G, et al. Dissociation of grey and white matter reduction in spinocerebellar Ataxia type 3 and 6: a voxel-based morphometry study. Neurosci Lett. 2006;408(3):230–235. Epub 2006 Sep 26. https://doi.org/10.1016/j.neulet.2006.09.007.

Faber J, Giordano I, Jiang X, Kindler C, Spottke A, Acosta-Cabronero J, et al. Prominent white matter involvement in multiple system Atrophy of cerebellar type. Mov Disord. 2020;35(5):816–24. https://doi.org/10.1002/mds.27987.

Article  CAS  PubMed  Google Scholar 

Oender D, Faber J, Wilke C, Schaprian T, Lakghomi A, Mengel D, et al. Evolution of clinical outcome measures and biomarkers in sporadic adult-onset degenerative Ataxia. Mov Disord. 2023;38(4):1654–64. https://doi.org/10.1002/mds.29324.

Article  CAS  Google Scholar 

Schuster KH, Zalon AJ, Zhang H, DiFranco DM, Stec NR, Haque Z, et al. Impaired oligodendrocyte maturation is an early feature in SCA3 disease pathogenesis. J Neurosci. 2022;42(8):1604–17. https://doi.org/10.1523/JNEUROSCI.1954-20.2021.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Jacobi H, du Montcel ST, Bauer P, Giunti P, Cook A, Labrum R, et al. Long-term disease progression in spinocerebellar Ataxia types 1, 2, 3, and 6: a longitudinal cohort study. Lancet Neurol. 2015;14(11):1101–8. https://doi.org/10.1016/S1474-4422(15)00202-1.

Article  PubMed  Google Scholar 

Jäschke D, Steiner KM, Chang DI, Claaßen J, Uslar E, Thieme A, et al. Age-related differences of cerebellar cortex and nuclei: MRI findings in healthy controls and its application to spinocerebellar Ataxia (SCA6) patients. Neuroimage. 2023;270:119950. https://doi.org/10.1016/j.neuroimage.2023.119950.

Article  CAS  PubMed  Google Scholar 

Oender D, Faber J, Wilke C, Schaprian T, Lakghomi A, Mengel D, et al. Evolution of clinical outcome measures and biomarkers in sporadic adult-onset degenerative ataxia. Mov Disord. 2023;38(4):654–64. https://doi.org/10.1002/mds.29324.

Article  CAS  PubMed  Google Scholar 

留言 (0)

沒有登入
gif