• Rogier A Feis, Bouts Mark J R J MJRJ Department of Radiology, Leiden University Medical Centre, Leiden, The Netherlands. , Frank de Vos, Tijn M Schouten, Jessica L Panman, Lize C Jiskoot, Dopper Elise G P EGP Department of Neurology, Erasmus Medical Centre, Rotterdam, The Netherlands., Jeroen van der Grond, John C van Swieten, and Rombouts Serge A R B SARB Department of Radiology, Leiden University Medical Centre, Leiden, The Netherlands. .
• Department of Radiology, Leiden University Medical Centre, Leiden, The Netherlands r.a.feis@lumc.nl.
• J. Neurol. Neurosurg. Psychiatr. 2019 Nov 1; 90 (11): 1207-1214.

BackgroundMultimodal MRI-based classification may aid early frontotemporal dementia (FTD) diagnosis. Recently, presymptomatic FTD mutation carriers, who have a high risk of developing FTD, were separated beyond chance level from controls using MRI-based classification. However, it is currently unknown how these scores from classification models progress as mutation carriers approach symptom onset. In this longitudinal study, we investigated multimodal MRI-based classification scores between presymptomatic FTD mutation carriers and controls. Furthermore, we contrasted carriers that converted during follow-up ('converters') and non-converting carriers ('non-converters').MethodsWe acquired anatomical MRI, diffusion tensor imaging and resting-state functional MRI in 55 presymptomatic FTD mutation carriers and 48 healthy controls at baseline, and at 2, 4, and 6 years of follow-up as available. At each time point, FTD classification scores were calculated using a behavioural variant FTD classification model. Classification scores were tested in a mixed-effects model for mean differences and differences over time.ResultsPresymptomatic mutation carriers did not have higher classification score increase over time than controls (p=0.15), although carriers had higher FTD classification scores than controls on average (p=0.032). However, converters (n=6) showed a stronger classification score increase over time than non-converters (p<0.001).ConclusionsOur findings imply that presymptomatic FTD mutation carriers may remain similar to controls in terms of MRI-based classification scores until they are close to symptom onset. This proof-of-concept study shows the promise of longitudinal MRI data acquisition in combination with machine learning to contribute to early FTD diagnosis.© Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.

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