| Prevalence | >95% of CBD patients carry H1/H1 genotype |
| Inheritance | Autosomal dominant |
| MAPT H1 haplotype | Major risk factor[@genotypephenotype] |
| Specific MAPT mutations | Cause familial CBD presentations[@medical] |
| Overlap genes | Shared risk with PSP, FTLD-Tau, and PD |
| Other genes | Reported associations with DCTN, TGM6 |
| Risk | H1/H1 increases CBD risk by 3-8 fold |
| Mechanism | May affect protein aggregation |
| Penetrance | ~90% by age 65 |
| Phenotype | Lower limb-onset parkinsonism with CBD features |
| Effect | Increases 4R tau isoform |
| R5L | Rare variant associated with CBD in some families |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
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