Particularly, one deletion (chr17:45993882–45993970) in exon 9 of MAPT was identified in a PSP patient, adding to previous reports of exonic deletions in the MAPT in frontotemporal dementia, such as deletion of exon 10 [68] and exons 6–9 [69] in MAPT. Using the SKAT-O test (N = 4,432), the 12 rare CNVs displayed a significantly higher burden in PSP than controls (P = 0.01, OR = 1.64). Here, MAPT is linked to supranuclear palsy, progressive, 1.