Computer methods and programs in biomedicine · 2026
Shape matters: Predicting Huntington's disease using progression modelling.
СтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Ghofrani-Jahromi Mohsen, Saha Susmita, Razi Adeel, Abeyasinghe Pubu M, Poudel Govinda R, Paulsen Jane S, Tabrizi Sarah J, Georgiou-Karistianis Nellie
Аннотация
BACKGROUND: Despite evidence of group-level differences in striatal morphometry among persons with Huntington's Disease (PwHD), current models of HD progression used for participant selection and assessment of treatment outcomes in clinical trials do not leverage shape information.
METHODS: We first validated the capability of a discriminative deep neural network to derive descriptors of shape from all subcortical structures affected by HD, utilizing 2,932 brain scans in 615 PwHD across three longitudinal datasets (TRACK-HD, PREDICT-HD, and IMAGE-HD). We then trained a conditional generative model that used shape descriptors, alongside conventional volumetric, genetic, as well as composite cognitive, motor, and functional features at baseline to predict biomarkers of disease progression at subsequent time points.
RESULTS: We observed that the anatomical shapes of subcortical structures, including putamen, lateral ventricle, pallidum, caudate, thalamus, and accumbens, exhibited strong associations with HD progression, as measured by a commonly used prognostic score. Furthermore, within-stage heterogeneity, along the continuum of disease progression, was better captured: when shape descriptors were aggregated using principal component analysis, they showed a high correlation with disease stage (Spearman's correlation: ρ = 0.72), compared to volumetric measurements in cubic millimetres (ρ = 0.45). Finally, incorporating subcortical shape into the generative model improved predictive performance, compared to the same model that relied solely on brain volumes.
CONCLUSION: This study demonstrates that subcortical brain shape is associated with HD progression, enables capturing fine-grained within-stage variability, and improves the predictability of characteristic biomarkers. The findings could potentially optimize future clinical trials through more targeted participant recruitment and more objective post-intervention assessments of treatment efficacy.
METHODS: We first validated the capability of a discriminative deep neural network to derive descriptors of shape from all subcortical structures affected by HD, utilizing 2,932 brain scans in 615 PwHD across three longitudinal datasets (TRACK-HD, PREDICT-HD, and IMAGE-HD). We then trained a conditional generative model that used shape descriptors, alongside conventional volumetric, genetic, as well as composite cognitive, motor, and functional features at baseline to predict biomarkers of disease progression at subsequent time points.
RESULTS: We observed that the anatomical shapes of subcortical structures, including putamen, lateral ventricle, pallidum, caudate, thalamus, and accumbens, exhibited strong associations with HD progression, as measured by a commonly used prognostic score. Furthermore, within-stage heterogeneity, along the continuum of disease progression, was better captured: when shape descriptors were aggregated using principal component analysis, they showed a high correlation with disease stage (Spearman's correlation: ρ = 0.72), compared to volumetric measurements in cubic millimetres (ρ = 0.45). Finally, incorporating subcortical shape into the generative model improved predictive performance, compared to the same model that relied solely on brain volumes.
CONCLUSION: This study demonstrates that subcortical brain shape is associated with HD progression, enables capturing fine-grained within-stage variability, and improves the predictability of characteristic biomarkers. The findings could potentially optimize future clinical trials through more targeted participant recruitment and more objective post-intervention assessments of treatment efficacy.