| Inheritance | Autosomal dominant |
| Behavioral variant FTD (bvFTD) | Personality and behavioral changes |
| Primary progressive aphasia (PPA) | Language impairment |
| Major causal genes | MAPT, GRN, C9orf72 (accounting for ~60% of familial FTD) |
| Other causal genes | VCP, CHCHD10, TARDBP, FUS |
| Risk genes | TMEM106B, APOE, ABCA7 |
| Mechanisms | Altered splicing, reduced tau binding to microtubules, increased aggregation |
| Phenotype | bvFTD, PPA, CBS |
| P301L | Most common, causes early onset bvFTD |
| P301S | Aggressive phenotype |
| K369I | Causes Lewy body pathology |
| Exon 10 mutations | Lead to 3R/4R tau imbalance |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
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