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Characterizing the clinical features and atrophy patterns of MAPT-Related Front...

Young, Alexandra L.; Bocchetta, Martina; Russell, Lucy L.; Convery, Rhian S.; Peakman, Georgia; Todd, Emily; Cash, David M.; Greaves, Caroline V.

Background and objective: Mutations in the MAPT gene cause frontotemporal dementia (FTD). Most previous studies investigating the neuroanatomical signature of MAPT mutations have grouped all different mutations together and shown an association with focal atrophy of the temporal lobe. However, the variability in atrophy patterns between each particular MAPT mutation is less well characterised. We aimed to inves...


Uncovering the heterogeneity and temporal complexity of neurodegenerative disea...

Young, Alexandra L.; Marinescu, Razvan V.; Oxtoby, Neil P.; Bocchetta, Martina; Yong, Keir; Firth, Nicholas C.; Cash, David M.; Thomas, David L.

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-se...


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