ArticleOrphanet journal of rare diseases2025
Progressive subcortical involvement as spinocerebellar ataxia type 3 advances.
Article in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.
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Who cites it
2 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Quantitative Ocular Motor / Vestibular Assessment in Patients with Spinocerebellar Ataxia Type 3 (SCA3, Machado Joseph Disease) - Systematic Review of the Literature.Cerebellum (London, England) · 2026Pooled it
- Polyglutamine-Expanded Ataxin-3 Accelerates CFTR Degradation Through K63-Linked Ubiquitination to Exacerbate Microglial Inflammation.ASN neuro · 2026Article
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14 authors.
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Abstract
BACKGROUND AND
objectivesSpinocerebellar ataxia type 3 (SCA3) is a progressive neurodegenerative disease characterized by heterogeneous motor and nonmotor manifestations. The progressive pattern of subcortical shape abnormalities and their associations with the clinical phenotypes in SCA3 remain unknown.
methodsTract-based spatial statistics (TBSS) and FSL-FIRST were used to characterize the progressive patterns of the abnormalities in white matter microstructure and subcortical shape in four subgroups of SCA3 patients stratified based on disease duration (n = 56). These were compared to matched healthy control groups (n = 59).
resultsTBSS analyses revealed a clear progressive pattern of white matter microstructural abnormalities throughout the course of SCA3, as indicated by an expanding topographic distribution of fractional anisotropy (FA) reductions that originated from the cerebellar peduncle. Vertex-based shape analyses uncovered an increasing number of affected subcortical structures in symptomatic patients as the disease progressed with concurrent inward atrophy and outward inflation in subcortical structures including the bilateral thalamus, caudate, putamen, pallidum, hippocampus and brainstem. Moreover, the localized shape changes of subcortical structures correlated bidirectionally with clinical measurements including the length of CAG repeats within the ATXN3 gene, the scores on the scale of the assessment, the rating of ataxia, the instrumental activities of daily living scale, and the mini-mental state examination.
conclusionWe demonstrated progressive, localized, and bidirectional changes in the shape of subcortical structures that related to diverse clinical manifestations in SCA3, highlighting the pivotal role of localized shape abnormalities in contributing to the clinical heterogeneity of this disorder.
trial registrationImaging genetics study the relationship between MJD1 gene and cognitive impairment with Spinocerebellar Ataxia type 3, ChiCTR1800019901. Registered 8 December 2018 and ChiCTR2000039434. Registered 28 October 2020, http://chictr.org.cn .
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.