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Updated: Dec 6, 2025
Cerebellar Regional Dissection for Molecular Analysis
Published on: December 5, 2020
In vivo microstructural white matter changes in early spinocerebellar ataxia 2
Albert Stezin1, Sujas Bhardwaj2, Sunil Khokhar3
1Department of Clinical Neurosciences, Department of Neurology, National Institute of Mental Health & Neurosciences (NIMHANS), Bangalore, India.
Objective:
White matter (WM) integrity of Spinocerebellar ataxia 2 (SCA2) is poorly understood, more so in the early stages of SCA2. In this study, we evaluated the microstructural integrity of the WM tracts with an emphasis on the nature of in vivo pathological involvement in early SCA2.
Materials And Methods:
We evaluated the MRI images of 26 genetically proven SCA2 patients with disease duration <5 years and 24 age- and gender-matched healthy controls using tract-based spatial statistics (TBSS) to identify the WM tract changes and their clinico-genetic correlates (age at onset, duration of disease, ataxia severity and CAG repeat length) using standard methodology.
Results:
The mean age at onset and duration of disease were 28.7 ± 8.51 years and 3.5 ± 0.69 months, respectively. The mean CAG repeat length was 42.5 ± 4.6, and the ataxia severity score was 16.1 ± 4.9. Altered DTI scalars signifying degeneration was present in the bilateral anterior thalamic radiation (ATR), corticospinal tract (CST), inferior fronto-occipital fasciculus (IFOF), superior and inferior longitudinal fasciculus (SLF and ILF), uncinate fasciculus (UF), cingulum, corpus callosum (CC), forceps major and forceps minor (corrected p < .05). DTI scalars representing demyelination was seen in the superior cerebellar peduncle (SCP) and cerebellar WM. There was a significant correlation of SARA score with axial diffusivity of the bilateral cingulum, ATR, CST, forceps minor, IFOF, ILF, SLF and SCP on the right side (corrected p < .05).
Conclusion:
Extensive WM involvement is present in early SCA2. The DTI scalars indicate degeneration and demyelination and may have clinical implications.
Insights
Early Spinocerebellar ataxia 2 (SCA2) shows widespread white matter (WM) changes, including degeneration and demyelination. These microstructural alterations in WM tracts correlate with ataxia severity, suggesting clinical implications.
Area of Science:
- Neuroscience
- Neurology
- Radiology
Background:
- Spinocerebellar ataxia 2 (SCA2) is a neurodegenerative disorder.
- White matter (WM) integrity in early SCA2 is not well understood.
Purpose of the Study:
- To evaluate the microstructural integrity of WM tracts in early SCA2.
- To investigate the in vivo pathological involvement of WM.
Main Methods:
- MRI scans of 26 early SCA2 patients (disease duration <5 years) and 24 healthy controls were analyzed.
- Tract-based spatial statistics (TBSS) was used to identify WM tract changes.
- Clinico-genetic correlates (age at onset, disease duration, ataxia severity, CAG repeat length) were assessed.
Main Results:
- Degenerative changes were observed in multiple WM tracts, including the anterior thalamic radiation (ATR), corticospinal tract (CST), and corpus callosum (CC).
- Demyelination was evident in the superior cerebellar peduncle (SCP) and cerebellar WM.
- Ataxia severity correlated significantly with altered diffusivity in several WM tracts.
Conclusions:
- Extensive WM involvement, characterized by degeneration and demyelination, is present in the early stages of SCA2.
- These findings suggest potential clinical implications for understanding SCA2 progression.
