ArticleEuropean journal of neurology2025
Altered Brain Iron Depositions of Spinocerebellar Ataxia Type 3: From Pre-Symptomatic to Symptomatic Stage.
Article in European journal of neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed.
- MRI end-points for clinical trials in ataxias: recommendations from the Ataxia Global Initiative MRI Biomarkers Working Group.Nature reviews. Neurology · 2026Review
- SCA14-Associated PKCγ-G118D Mutant Exhibits a Detrimental Effect on Cerebellar Purkinje Cell Dendritic Growth.International journal of molecular sciences · 2025Article
- Psychomotor and non-motor correlates of cognition in spinocerebellar ataxias Types 1, 2, 3, and 6.Brain communications · 2025Article
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11 authors.
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Abstract
backgroundSpinocerebellar ataxia type 3 (SCA3) is a rare hereditary neurodegeneration disease. The iron distribution of SCA3 is poorly understood, yet quantitative susceptibility mapping (QSM) has rarely been used in SCA3.
methodsWe prospectively investigated QSM of SCA3 (19 pre-symptomatic and 41 symptomatic) and 37 healthy controls (HCs) recruited from 2018.05 to 2021.01. Group susceptibility was cross-sectionally compared, and the associations between altered brain iron deposition and clinical symptoms, neurofilament light chain (Nfl), and fractional anisotropy of the bilateral corticospinal tracts and cerebellar peduncles were explored. 12 SCA3 participants were followed for at least a year.
resultsCompared to HCs, bilateral SN were observed with significantly increased susceptibility in pre-symptomatic SCA3. Most of the supratentorial nuclei and the right dental nucleus had increased susceptibility in symptomatic than in pre-symptomatic stage and were partially correlated with symptomatic severity, disease duration, and damaged cerebellar peduncles (p < 0.05) but not Nfl (p > 0.05). The left substantia nigra (SN) demonstrated the highest diagnostic efficacy in identifying pre- (AUC = 0.904) and symptomatic SCA3 (AUC = 0.938). The longitudinal study also confirmed the significant change in the left SN (p < 0.01).
conclusionsOur in vivo QSM evidence demonstrates disease-specific patterns for brain iron depositions in SCA3. Brain iron deposition abnormality is an early event of the SCA3's occurrence and development. The left SN might be a critical site for the disease's start and development.
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