In further segregation analyses, we used Sanger sequencing to screen for the 7 variants in all clinically affected subjects and eight presumptive unaffected family members in the family, and found that only the N279K missense mutation in MAPT, which has previously been reported to cause frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) [8–12], completely co-segregated with the phenotype in this family (Fig 5). This evidence concerns the gene MAPT and frontotemporal dementia.