Uncovering the heterogeneity and temporal complexity of neurodegenerative diseases with Subtype and Stage Inference.

ABSTRACT: The heterogeneity of neurodegenerative diseases is a key confound to disease understanding and treatment development, as study cohorts typically include multiple phenotypes on distinct disease trajectories. Here we introduce a machine-learning technique-Subtype and Stage Inference (SuStaIn)-able to uncover data-driven disease phenotypes with distinct temporal progression patterns, from widely available cross-sectional patient studies. Results from imaging studies in two neurodegenerative diseases reveal subgroups and their distinct trajectories of regional neurodegeneration. In genetic frontotemporal dementia, SuStaIn identifies genotypes from imaging alone, validating its ability to identify subtypes; further the technique reveals within-genotype heterogeneity. In Alzheimer's disease, SuS

SUBMITTER: Young AL 

PROVIDER: S-EPMC6189176 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature