Lubna Mahmoud, Abu Zohair
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Huntington's disease (HD) is a progressive neurodegenerative disorder that affects motor, cognitive, and behavioral functions, where accurate characterization of disease progression remains essential to improve patient outcome and quality of life. Unsupervised machine learning (ML) approaches have demonstrated the ability to uncover disease progression trajectories and meaningful latents stages from longitudinal data; however, their limited interpretability restricts clinical trust and translation. We extend a previously proposed ML-based disease staging framework by applying an explainability analysis to the extracted feature representations and discovered disease stages. Applied to the Enroll-HD dataset, we first project the learned representations into a lower-dimensional space to intuitively assess whether the resulting clusters align with the progression of established clinical measures. We then use saliency maps to identify the clinical features that most strongly contribute to the learned embeddings over time. Finally, we train a surrogate classifier and apply SHAP to quantify feature importance for cluster assignments and to analyze which clinical variables drive transitions between disease stages. The explainability analysis indicates that the learned embeddings capture clinically meaningful disease structure, aligning with established motor and functional severity scores and exhibiting progressive deterioration across clusters. Within this analysis, SHAP reveals a stratification of disease stages, ranging from early cognitive-motor impairment to severe functional dependency, consistent with known clinical progression patterns, while also highlighting intra-stage variability. Leveraging established and widely accessible methods, this work enhances trust in unsupervised modelling by providing interpretability of latent disease progression patterns, improving transparency and clinical interpretability, supporting data-driven staging on comprehensive datasets, and facilitating clinical feedback for reliable implementation. These findings may further generalize to other neurodegenerative conditions
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