Figure 2.
MAPT mutations and associated clinical presentations in frontotemporal lobar degeneration
The vast majority of reported mutations are in exons 9-13 and in the intronic region following exon 10. The most commonly reported presentations are bvFTD, PSP, and unspecified types of FTD. The mutations associated with a bvFTD and unspecified FTD presentation are well distributed among exons 9-13, while all but 3 mutations presenting with a PSP phenotype are within exon 10 and the intronic region following it. The four mutations associated with a CBS presentation are located in exons 10 and 13. The two mutations associated with PNFA are in exon 12 and 13 and the two SD-associated mutation are located in exons 1 and 10. All the intronic mutations are associated with either bvFTD or an unspecified FTD subtype. PSP was the other clinical presentation observed in intronic mutations. The three most commonly reported mutations are N279K, P301L, and IVS10+16. Exons in orange encode the microtubule-binding repeats, while exons in blue encode the amino-terminal inserts.