Thalamic nuclei atrophy in autosomal dominant Alzheimer's disease

Motivation: The thalamus has not been investigated properly in autosomal dominant Alzheimer's disease (ADAD) despite evidence of early involvement. Goal(s): We investigated thalamic nuclei atrophy in asymptomatic presenilin carriers vs. non-carriers in an ADAD cohort using a recently proposed multi-atlas segmentation method. Approach: Thalamic nuclear atrophy and correlations of nuclei volumes with age, amyloid, and tau burden were analyzed in mutation carriers vs. non-carriers in an ADAD cohort. Results: Significant atrophy was seen in mediodorsal, pulvinar, and medial geniculate nuclei in carriers compared to non-carriers. These nuclear volumes correlated significantly with age, amyloid, and tau burden as well. Impact: The pattern of thalamic nuclear atrophy in ADAD presenilin mutation carriers can help understand mechanisms for disease progression as well as aid in possible treatment targets.