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

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

doi:10.1016/j.nicl.2022.103023

Cited by 6 publications

(5 citation statements)

References 43 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…However, other studies also show an effect on other brain regions, such as basal ganglia, pallidum, and diencephalon ( Arruda et al, 2020 ). Morphometric MRI has demonstrated typical patterns of atrophy or volume loss in the cerebellum and brainstem with ulterior lesions in some supratentorial areas ( Wan et al, 2020 ; Stezin et al, 2021 ; van der Horn et al, 2022 ; Yap et al, 2022a ). Some specific focal or regional atrophies noted in certain SCAs are present in SCA3, where studies show pontocerebellar atrophy with enlargement of the fourth ventricle ( Bhandari et al, 2022 ).…”

Section: Methodsmentioning

confidence: 99%

Neurocognitive and cerebellar function in ADHD, autism and spinocerebellar ataxia

Cundari,

Vestberg,

Gustafsson

et al. 2023

Front. Syst. Neurosci.

View full text Add to dashboard Cite

The cerebellum plays a major role in balance, motor control and sensorimotor integration, but also in cognition, language, and emotional regulation. Several neuropsychiatric disorders such as attention deficit-hyperactivity disorder (ADHD), autism spectrum disorder (ASD), as well as neurological diseases such as spinocerebellar ataxia type 3 (SCA3) are associated with differences in cerebellar function. Morphological abnormalities in different cerebellar subregions produce distinct behavioral symptoms related to the functional disruption of specific cerebro-cerebellar circuits. The specific contribution of the cerebellum to typical development may therefore involve the optimization of the structure and function of cerebro-cerebellar circuits underlying skill acquisition in multiple domains. Here, we review cerebellar structural and functional differences between healthy and patients with ADHD, ASD, and SCA3, and explore how disruption of cerebellar networks affects the neurocognitive functions in these conditions. We discuss how cerebellar computations contribute to performance on cognitive and motor tasks and how cerebellar signals are interfaced with signals from other brain regions during normal and dysfunctional behavior. We conclude that the cerebellum plays a role in many cognitive functions. Still, more clinical studies with the support of neuroimaging are needed to clarify the cerebellum’s role in normal and dysfunctional behavior and cognitive functioning.

show abstract

Section: Methodsmentioning

confidence: 99%

Neurocognitive and cerebellar function in ADHD, autism and spinocerebellar ataxia

Cundari,

Vestberg,

Gustafsson

et al. 2023

Front. Syst. Neurosci.

View full text Add to dashboard Cite

show abstract

“…ICA detects sets of brain regions that have a similar time course of activity across the fMRI acquisition period, identifying whole-brain intrinsic functional networks. Van der Horn and colleagues [ 84 ] recently employed an ICA analysis to identify a network of brain regions encompassing the cerebellum, anterior striatum, and fronto-parietal cortices that are implicated in SCA3. rs-fMRI is not used clinically in ataxia contexts, and its utility as a prospective imaging biomarker or outcome measure in clinical care or trial contexts remains to be validated.…”

Section: Resting-state Functional Mrimentioning

confidence: 99%

MR Imaging in Ataxias: Consensus Recommendations by the Ataxia Global Initiative Working Group on MRI Biomarkers

Öz¹,

Cocozza²,

Henry³

et al. 2023

Cerebellum

View full text Add to dashboard Cite

With many viable strategies in the therapeutic pipeline, upcoming clinical trials in hereditary and sporadic degenerative ataxias will benefit from non-invasive MRI biomarkers for patient stratification and the evaluation of therapies. The MRI Biomarkers Working Group of the Ataxia Global Initiative therefore devised guidelines to facilitate harmonized MRI data acquisition in clinical research and trials in ataxias. Recommendations are provided for a basic structural MRI protocol that can be used for clinical care and for an advanced multi-modal MRI protocol relevant for research and trial settings. The advanced protocol consists of modalities with demonstrated utility for tracking brain changes in degenerative ataxias and includes structural MRI, magnetic resonance spectroscopy, diffusion MRI, quantitative susceptibility mapping, and resting-state functional MRI. Acceptable ranges of acquisition parameters are provided to accommodate diverse scanner hardware in research and clinical contexts while maintaining a minimum standard of data quality. Important technical considerations in setting up an advanced multi-modal protocol are outlined, including the order of pulse sequences, and example software packages commonly used for data analysis are provided. Outcome measures most relevant for ataxias are highlighted with use cases from recent ataxia literature. Finally, to facilitate access to the recommendations by the ataxia clinical and research community, examples of datasets collected with the recommended parameters are provided and platform-specific protocols are shared via the Open Science Framework.

show abstract

“…Differential changes in functional connectivity have been established for different SCA subtypes based on resting-state fMRI [ 25 , 26 , 40 ]. We did not deem it appropriate to discuss the differential pattern of volumetric changes in comparison to fMRI findings in distinct SCA aetiologies due to the differences in the group composition and the methodological differences.…”

Section: Discussionmentioning

confidence: 99%

“…Functional connectivity MRI (fcMRI) has revealed network alterations, which involve cerebellar and cerebral cortical areas in SCA2 [ 18 , 26 ]. Also, other SCA subtypes such as SCA3 or SCA6 show patterns of neurodegeneration, which extend beyond the cerebellum and brainstem [ 16 , 29 , 32 , 40 ]. The findings of extensive degeneration are also supported by neuropathological post-mortem findings in SCA2 and 6 [ 5 , 7 ].…”

Section: Introductionmentioning

confidence: 99%

Disability in cerebellar ataxia syndromes is linked to cortical degeneration

Conrad¹,

Huppert²,

Ruehl³

et al. 2023

J Neurol

View full text Add to dashboard Cite

Objective We aimed to relate clinical measures of disability in chronic cerebellar degeneration to structural whole-brain changes using voxel-based and surface-based morphometry (vbm and sbm). We were particularly interested in remote effects of cerebellar degeneration in the cerebral cortex. Methods We recruited 30 patients with cerebellar degeneration of different aetiologies (downbeat nystagmus syndrome, DBN n = 14, spinocerebellar ataxia, SCA n = 9, sporadic adult late-onset ataxia, SAOA n = 7). All patients were thoroughly characterised in the motor, cognitive, vestibular and ocular–motor domains. Vbm and sbm were used to evaluate structural differences between cerebellar degeneration patients and a group of healthy age- and gender-matched volunteers. Linear regression models were used to correlate functional measures of disease progression and postural stability with whole brain volumetry. Results Patients with SCA and SAOA showed widespread volume loss in the cerebellar hemispheres and less prominently in the vermis. Patients with DBN showed a distinct pattern of grey matter volume (GMV) loss that was restricted to the vestibular and ocular–motor representations in lobules IX, X and V–VII. Falls were associated with brainstem white matter volume. VBM and SBM linear regression models revealed associations between severity of ataxic symptoms, cognitive performance and preferred gait velocity. This included extra-cerebellar (sub-)cortical hubs of the motor and locomotion network (putamen, caudate, thalamus, primary motor cortex, prefrontal cortex) and multisensory areas involved in spatial navigation and cognition. Conclusion Functional disability in multiple domains was associated with structural changes in the cerebral cortex.

show abstract

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

Cited by 6 publications

References 43 publications

Neurocognitive and cerebellar function in ADHD, autism and spinocerebellar ataxia

Neurocognitive and cerebellar function in ADHD, autism and spinocerebellar ataxia

MR Imaging in Ataxias: Consensus Recommendations by the Ataxia Global Initiative Working Group on MRI Biomarkers

Disability in cerebellar ataxia syndromes is linked to cortical degeneration

Contact Info

Product

Resources

About