Clinicogenetic correlations in behavioral variant frontotemporal dementia

Our findings are consistent with previous reports indicating approximately 60% of bvFTD cases are FTLD-TDP with slight male predominance. Surprisingly, we found high rates of co-pathology-specifically ADNC. This was more common in FTLD-TDP than FTLD-Tau and not associated with APOE e4 homozygosity. High rates of clinically relevant ADNC have increasing relevance because of newly-available disease-modifying therapies. We found a relative MAPT H1 risk haplotype enrichment in FTLD-Tau compared to FTLD-TDP. We identified a 44.6% greater-than-expected number of monogenic cases, suggesting that bvFTD is relatively enriched for familial forms compared to the full FTD spectrum. Future work will focus on gene burden analysis to identify rare variants that contribute to disease.