ArticleEuropean radiology2023
Structural alterations of spinocerebellar ataxias type 3: from pre-symptomatic to symptomatic stage.
Article in European radiology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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12 citing papers in PubMed, 18 citations in OpenAlex.
- Abnormal Local Brain Activity in SCA3 Patients with Cognitive Impairment: A Resting-State Functional MRI Study.Cerebellum (London, England) · 2026Article
- Mapping the Disrupted Connectome in Spinocerebellar Ataxia Type 3: A Network-Based Statistics Study Identifying Novel Therapeutic Targets for Neuromodulation.CNS neuroscience & therapeutics · 2026Article
- Investigation of the large-scale white-matter functional networks in spinocerebellar ataxia type 3.Quantitative imaging in medicine and surgery · 2025Article
- Long-read sequencing identifies ATXN3 repeat expansions, and transcriptomics reveals disease progression biomarkers and druggable targets for spinocerebellar ataxia type 3.BMC neurology · 2025Article
- Altered static and dynamic spontaneous brain activity patterns in spinocerebellar ataxia type3 patients.Journal of neurology · 2025Article
- Progressive subcortical involvement as spinocerebellar ataxia type 3 advances.Orphanet journal of rare diseases · 2025Article
- Altered Brain Iron Depositions of Spinocerebellar Ataxia Type 3: From Pre-Symptomatic to Symptomatic Stage.European journal of neurology · 2025Article
- Associations between CAG repeat size, brain and spinal cord volume loss, and motor symptoms in spinocerebellar ataxia type 3: a cohort study.Orphanet journal of rare diseases · 2025Article
- Global and Regional Brain Grey and White Matter Morphometry Alterations in Type 1, 2, and 3 Spinocerebellar Ataxias (SCAs) Patients.Cerebellum (London, England) · 2024Article
- Characteristics of tandem repeat inheritance and sympathetic nerve involvement in GAA-FGF14 ataxia.Journal of human genetics · 2024Article
- Altered large-scale individual-based morphological brain network in spinocerebellar ataxia type 3.CNS neuroscience & therapeutics · 2023Article
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9 authors at 1 institution in 1 country.
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Abstract
objectivesTo investigate and characterize the structural alterations of the brain in SCA3, and their correlations with the scale for the assessment and rating of ataxia (SARA) and normal brain ATXN3 expression.
methodsWe performed multimodal analyses in 52 SCA3 (15 pre-symptomatic) and healthy controls (HCs) (n = 35) to assess the abnormalities of gray and white matter (WM) of the cerebrum, brainstem, and cerebellum via FreeSurfer, SUIT, and TBSS, and their associations with disease severity. Twenty SCA3 patients (5 pre- and 15 symptomatic) were followed for at least a year. Besides, we uncovered the normal pattern of brain ATXN3 spatial distribution.
resultsPre-symptomatic patients showed only WM damage, mainly in the cerebellar peduncles, compared to HCs. In the advanced stage, the WM damage followed a caudal-rostral pattern. Meanwhile, continuous nonlinear structure damage was characterized by brainstem volumetric reduction and relatively symmetric cerebellar and basal ganglia atrophy but spared the cerebral cortex, partially explained by the ATXN3 overexpression. The bilateral pallidum, brainstem, and cerebellar peduncles demonstrated a very large effect size. Besides, all these alterations were significantly correlated with SARA; the pons (r = -0.65) and superior cerebellar peduncle (r = -0.68) volume demonstrated a higher correlation than the cerebellum with SARA. The longitudinal study further uncovered progressive atrophy of pons in symptomatic SCA3.
conclusionsSignificant WM damage starts before the ataxia onset. The bilateral pallidum, brainstem, and cerebellar peduncles are the most vulnerable targets. The volume of pons appears to be the most promising imaging biomarker for a longitudinal study.
trial registrationClinicalTrial ID: ChiCTR2100045857 ( http://www.chictr.org.cn/edit.aspx?pid=55652&htm=4 ) KEY POINTS: • Pre- SCA3 showed WM damage mainly in cerebellar peduncles. Continuous brain damage was characterized by brainstem, widespread, and relatively symmetric cerebellar and basal ganglia atrophy. • Volumetric abnormalities were most evident in the bilateral pallidum, brainstem, and cerebellar peduncles in SCA3. • The volume of pons might identify the disease progression longitudinally.
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