Table 3.
Examples for the correlation between genotype-phenotype in frontotemporal lobar degeneration
| Location of MAPT mutation | Predominant isoform composition | Cellular pathology | Morphology of filaments | Clinical presentation |
|---|---|---|---|---|
| Exon10 | 4R | Neuronal and Glial | Twisted ribbon-like filaments | FTDP-17 |
| PSP | ||||
| CBD | ||||
| Intron 10 | 4R | Neuronal and Glial | Wide-twisted ribbons | FTDP-17 |
| PSP | ||||
| CBD | ||||
| Missense mutations outside Exon10 | 3R | Neuronal | PHFs and SFs | FTDP-17 |
PHFs-Paired helical filaments; SD-Semantic dementia; FTDP-17-Frontotemporal dementia with parkinsonism linked to chromosome 17; PSP-Progressive supranuclear palsy; CBD-Corticobasal degeneration.