A resting-state fMRI pattern of spinocerebellar ataxia type 3 and comparison with 18F-FDG PET

Harm J. van der Horn*, Sanne K. Meles, Jelmer G. Kok, Victor M. Vergara, Shile Qi, Vince D. Calhoun, Jelle R. Dalenberg, Jeroen C.W. Siero, Remco J. Renken, Jeroen J. de Vries, Jacoba M. Spikman, Hubertus P.H. Kremer, Bauke M. De Jong

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


Spinocerebellar ataxia type 3 (SCA3) is a rare genetic neurodegenerative disease. The neurobiological basis of SCA3 is still poorly understood, and up until now resting-state fMRI (rs-fMRI) has not been used to study this disease. In the current study we investigated (multi-echo) rs-fMRI data from patients with genetically confirmed SCA3 (n = 17) and matched healthy subjects (n = 16). Using independent component analysis (ICA) and subsequent regression with bootstrap resampling, we identified a pattern of differences between patients and healthy subjects, which we coined the fMRI SCA3 related pattern (fSCA3-RP) comprising cerebellum, anterior striatum and various cortical regions. Individual fSCA3-RP scores were highly correlated with a previously published 18F-FDG PET pattern found in the same sample (rho = 0.78, P = 0.0003). Also, a high correlation was found with the Scale for Assessment and Rating of Ataxia scores (r = 0.63, P = 0.007). No correlations were found with neuropsychological test scores, nor with levels of grey matter atrophy. Compared with the 18F-FDG PET pattern, the fSCA3-RP included a more extensive contribution of the mediofrontal cortex, putatively representing changes in default network activity. This rs-fMRI identification of additional regions is proposed to reflect a consequence of the nature of the BOLD technique, enabling measurement of dynamic network activity, compared to the more static 18F-FDG PET methodology. Altogether, our findings shed new light on the neural substrate of SCA3, and encourage further validation of the fSCA3-RP to assess its potential contribution as imaging biomarker for future research and clinical use.

Original languageEnglish
Article number103023
Pages (from-to)1-10
JournalNeuroImage: Clinical
Publication statusPublished - 2022


  • Ataxia
  • BOLD
  • Brain glucose metabolism
  • Disease-related pattern
  • ICA
  • Neurodegenerative Diseases
  • Machado-Joseph Disease/diagnostic imaging
  • Humans
  • Fluorodeoxyglucose F18
  • Magnetic Resonance Imaging/methods
  • Positron-Emission Tomography/methods


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