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Clinical phenotypes associated with MAPT gene mutations.
| Clinical Phenotype | MAPT gene mutation |
|---|---|
| Early prominent personality change with disinhibition–dementia–parkinsonism–amyotrophy complex (DDPAC) | intron 10 + 14 (190, 191) |
| Early onset aggressive parkinsonism | N279K, P301S, intron 10 + 16,G389R, intron 10 + 13 (57) |
| CBS phenotype | N410H, P301S (192, 193) G389R, C291R (96) |
| Rest tremor (uncommon in FTD-parkinsonism) | K317M, G389R, Q336H (194, 195) |
