Brain structural damage in spinocerebellar ataxia type 1

Ginestroni, Andrea; Nave, Riccardo Della; Tessa, Carlo; Giannelli, Marco; Grandis, D. De; Plasmati, R.; Salvi, Fabrizio; Piacentini, Silvia; Mascalchi, Mario

doi:10.1007/s00415-008-0860-4

Cited by 23 publications

(7 citation statements)

References 19 publications

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“…Contrary to the findings of Brenneis et al (2003), Della Nave et al (2004, 2008a,b), Ginestroni et al (2008) and Ying et al (2006), the correlation calculated in this work between cerebellar GM volume and ataxia score was not found to be significant, most probably due to the small size of our cohort. However, other studies also failed to find significant correlations with cerebellar GM volume (Prakash et al, 2009;Akhlaghi et al, 2011) and found the ataxia score to be correlated with other metrics related to the cerebellar peduncles -dMRI metrics (Prakash et al, 2009) and volume metrics (Akhlaghi et al, 2011).…”

Section: White Matter Damage and Clinical Scorecontrasting

confidence: 99%

“…In the MCP, Ginestroni et al (2008) andDella Nave et al (2008b), in both cases using VBM, demonstrated reduced volumes in patients (in an SCA1 and SCA2 cohort respectively), while Burk et al (1996) showed reduced total volume in SCA1, SCA2 and SCA3 patients. Guerrini et al (2004) and Della Nave et al All registrations were similar but in the worst case the most superior GM regions were more flattened, most probably due to the greater atrophy of the particular subject compared to the template.…”

Section: Impact Of Cerebellar Atrophy On Cerebellar Pedunclesmentioning

confidence: 97%

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Impact of cerebellar atrophy on cortical gray matter and cerebellar peduncles as assessed by voxel-based morphometry and high angular resolution diffusion imaging

Dayan

Olivito

Molinari

et al. 2016

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SummaryIn recent years the cerebellum has been attributed a more important role in higher-level functions than previously believed. We examined a cohort of patients suffering from cerebellar atrophy resulting in ataxia, with two main objectives: first to investigate which regions of the cerebrum were affected by the cerebellar degeneration, and second to assess whether diffusion magnetic resonance imaging (dMRI) metrics within the medial ( 0.70, p=0.04). The regions of the cerebrum found to have significantly lower local GM volumes have been described to be involved in higher-level cerebellar functions such as initiation of voluntary movements, emotional control, memory retrieval and general cognition. Our findings corroborate recent research pointing to a more extensive corticocerebellar system than previously thought. The significant difference in the MCP and SCP dMRI metrics between patients and controls as well as the significant correlation with ataxia total score and subscores support the use of dMRI metrics as an imaging biomarker for cerebellar degeneration and ataxia.

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Section: White Matter Damage and Clinical Scorecontrasting

confidence: 99%

Section: Impact Of Cerebellar Atrophy On Cerebellar Pedunclesmentioning

confidence: 97%

Impact of cerebellar atrophy on cortical gray matter and cerebellar peduncles as assessed by voxel-based morphometry and high angular resolution diffusion imaging

Dayan

Olivito

Molinari

et al. 2016

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“…Development of imaging biomarkers for SCAs is important to non-invasively track progression of disease pathology and monitor response to interventions. Hence, previous studies utilized MR imaging techniques such as volumetry (11)(12)(13)(14) and spectroscopy (15)(16)(17) to show macrostructural and neurochemical differences between participants with different SCA types and healthy controls. In addition, there are efforts to understand the progression of disease by performing crosssectional analysis in groups at different stages of the disease (18) or longitudinal analysis with follow-up measurements of the same subjects (14,19).…”

Section: Introductionmentioning

confidence: 99%

Assessment of Cerebral and Cerebellar White Matter Microstructure in Spinocerebellar Ataxias 1, 2, 3, and 6 Using Diffusion MRI

et al. 2020

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Development of imaging biomarkers for rare neurodegenerative diseases such as spinocerebellar ataxia (SCA) is important to non-invasively track progression of disease pathology and monitor response to interventions. Diffusion MRI (dMRI) has been shown to identify cross-sectional degeneration of white matter (WM) microstructure and connectivity between healthy controls and patients with SCAs, using various analysis methods. In this paper, we present dMRI data in SCAs type 1, 2, 3, and 6 and matched controls, including longitudinal acquisitions at 12-24-month intervals in a subset of the cohort, with up to 5 visits. The SCA1 cohort also contained 3 premanifest patients at baseline, with 2 showing ataxia symptoms at the time of the follow-up scans. We focused on two aspects: first, multimodal evaluation of the dMRI data in a cross-sectional approach, and second, longitudinal trends in dMRI data in SCAs. Three different pipelines were used to perform cross-sectional analyses in WM: region of interest (ROI), tract-based spatial statistics (TBSS), and fixel-based analysis (FBA). We further analyzed longitudinal changes in dMRI metrics throughout the brain using ROI-based analysis. Both ROI and TBSS analyses identified higher mean (MD), axial (AD), and radial (RD) diffusivity and lower fractional anisotropy (FA) in the cerebellum for all SCAs compared to controls, as well as some cerebral alterations in SCA1, 2, and 3. FBA showed lower fiber density (FD) and fiber crossing (FC) regions similar to those identified by ROI and TBSS analyses. FBA also highlighted corticospinal tract (CST) abnormalities, which was not detected by the other two pipelines. Longitudinal ROI-based analysis showed significant increase in AD in the middle cerebellar peduncle (MCP) for patients with SCA1, suggesting that the MCP may be a good candidate region to monitor disease progression. The patient who remained symptom-free throughout the study displayed Park et al. Brain dMRI on Common SCAs no microstructural abnormalities. On the other hand, the two patients who were at the premanifest stage at baseline, and showed ataxia symptoms in their follow-up visits, displayed AD values in the MCP that were already in the range of symptomatic patients with SCA1 at their baseline visit, demonstrating that microstructural abnormalities are detectable prior to the onset of ataxia.

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“…VBM is capable of assessing gray matter atrophy by differentiating gray matter from white matter (7). It has been reported that VBM is useful for the diagnosis of cerebellar atrophy (4)(5)(6)(7)(8) …”

Section: Resultsmentioning

confidence: 99%

Classification of Cerebellar Atrophy Using Voxel-based Morphometry and SPECT with an Easy Z-score Imaging System

et al. 2010

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Brain structural damage in spinocerebellar ataxia type 1

Abstract: VBM confirms that atrophy predominantly involves the brainstem and cerebellum in SCA1. The correlation with the clinical features indicates that VBM might be useful to monitor disease progression.

Cited by 23 publications

References 19 publications

Impact of cerebellar atrophy on cortical gray matter and cerebellar peduncles as assessed by voxel-based morphometry and high angular resolution diffusion imaging

Impact of cerebellar atrophy on cortical gray matter and cerebellar peduncles as assessed by voxel-based morphometry and high angular resolution diffusion imaging

Assessment of Cerebral and Cerebellar White Matter Microstructure in Spinocerebellar Ataxias 1, 2, 3, and 6 Using Diffusion MRI

Classification of Cerebellar Atrophy Using Voxel-based Morphometry and SPECT with an Easy Z-score Imaging System

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