Analysis reveals different patterns of brain tissue damage in pediatric-onset and adult-onset Huntington disease, suggesting unique underlying mechanisms.
Motivation: Quantification of brain tissue damage in Huntington disease (HD) is essential to design therapeutic strategies to prevent progression of neurodegeneration. Goal(s): To compare frequency and extent of deviations from normative ranges in pediatric-onset (POHD) and adult-onset HD (AOHD). Approach: Z-score maps of T1 relaxometry were estimated using a normative atlas accounting for age and sex. The distribution of abnormal voxels was compared between the two HD forms. Results: Striatal regions were severely damaged in both forms, but to a larger extent in POHD. POHD also showed higher z-scores in thalamus, midbrain, occipital and frontotemporal WM, and cerebellum, relatively spared in AOHD. Impact: Identification of specific regions of quantitative T1 abnormalities in different forms of Huntington disease may provide precious insights into pathophysiological mechanisms driving the different clinical presentations, as well as a promising biomarker to non-invasively monitor response to novel therapeutic strategies.
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Caligiuri et al. (2025) studied this question.
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