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Functional and Structural Brain Damage in Friedreich's Ataxia.
Marinela Vavla1, Filippo Arrigoni2, Andrea Nordio2,3
1Severe Developmental Disabilities Unit, Scientific Institute, IRCCS "Eugenio Medea", Conegliano, Italy.
Frontiers in Neurology
|September 22, 2018
Summary
Friedreich
Area of Science:
- Neuroscience
- Genetics
- Radiology
Background:
- Friedreich's ataxia (FRDA) is a rare hereditary neurodegenerative disorder.
- It is caused by a GAA repeat expansion in the FXN gene.
- Currently, there is no cure or reliable quantitative biomarkers for FRDA progression.
Purpose of the Study:
- To investigate functional and structural alterations in white matter (WM) and gray matter (GM) in FRDA patients.
- To establish MRI as a tool for monitoring disease progression and treatment response.
Main Methods:
- Multimodal cross-sectional MRI study including Voxel-Based Morphometry (VBM), diffusion-tensor imaging (DTI), and functional MRI (fMRI).
- 21 early-onset FRDA patients and 18 healthy controls (HCs) were analyzed.
- Correlations were performed with clinical severity scores, age at onset (AAO), and GAA repeat length.
Main Results:
- VBM revealed GM volume reduction in FRDA patients in specific cerebellar and vermis regions.
- DTI showed widespread WM alterations, including reduced fractional anisotropy and increased mean, radial, and axial diffusivity, correlating with disease severity.
- fMRI indicated differences in cerebellar activation during non-dominant hand movement between FRDA patients and HCs.
Conclusions:
- Multimodal MRI effectively documents neurological impairment in FRDA.
- MRI findings correlate with clinical parameters, suggesting its potential as a biomarker for disease progression and treatment efficacy.