| Prevalence | >95% of PSP patients are H1/H1 |
| Inheritance | Autosomal dominant |
| MAPT H1 haplotype | Major risk factor, ~40% of genetic susceptibility |
| Specific MAPT mutations | Cause familial PSP (P301L, ΔN296, etc.) |
| Other risk genes | STX6, MOBP, EIF2AK3 |
| Mechanism | May affect tau processing |
| Risk | H1/H1 genotype increases PSP risk by 3-5 fold compared to H1/H2 |
| Penetrance | High (~90% by age 60) |
| Phenotype | PSP phenotype with prominent supranuclear gaze palsy |
| Effect | Increases 4R tau isoform production |
| Family history | Often autosomal dominant |
| P301S | Rare mutation with PSP phenotype[^7] |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
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