Spinal cord damage in Machado-Joseph disease

Area of Science:

• Neurology
• Radiology
• Genetics

Background:

• Machado-Joseph disease (SCA3) is the most common spinocerebellar ataxia, presenting with diverse symptoms.
• Previous MRI studies focused on the cerebellum, with limited understanding of spinal cord involvement and its clinical significance.

Purpose of the Study:

• To quantitatively assess spinal cord damage in SCA3 patients using MRI.
• To investigate the relationship between spinal cord changes and disease severity.

Main Methods:

• Quantitative MRI analysis of cervical spinal cord area (CA) and eccentricity (CE) in 48 SCA3 patients and 48 controls.
• Utilized T1-weighted 3D images and semi-automatic segmentation at C2/C3 levels.
• Assessed disease severity using the Scale for Assessment and Rating of Ataxia (SARA).

Main Results:

• SCA3 patients exhibited significantly reduced cervical spinal cord area (CA) and increased eccentricity (CE) compared to controls.
• A significant inverse correlation was found between CA and SARA scores, indicating greater atrophy with increased disease severity.
• Disease duration was the sole predictor of reduced CA in multivariate regression analysis.

Conclusions:

• Machado-Joseph disease is associated with cervical spinal cord atrophy and anteroposterior flattening.
• Quantitative MRI analysis of the spinal cord shows potential as a valuable biomarker for SCA3.
• Spinal cord metrics correlate with clinical disease severity, highlighting the importance of evaluating the entire neuroaxis in SCA3.