disease 1,065 words KG: ent-dise-53bf9a4e 2026-03-22
kind:diseasesection:diseasesstate:published
Contents

CBD Genetic Variants

Disease Info
Prevalence>95% of CBD patients carry H1/H1 genotype
InheritanceAutosomal dominant
MAPT H1 haplotypeMajor risk factor[@genotypephenotype]
Specific MAPT mutationsCause familial CBD presentations[@medical]
Overlap genesShared risk with PSP, FTLD-Tau, and PD
Other genesReported associations with DCTN, TGM6
RiskH1/H1 increases CBD risk by 3-8 fold
MechanismMay affect protein aggregation
Penetrance~90% by age 65
PhenotypeLower limb-onset parkinsonism with CBD features
EffectIncreases 4R tau isoform
R5LRare variant associated with CBD in some families
DatabasesOMIMOrphanetClinicalTrialsPubMed

Knowledge Graph

Related Hypotheses (30)

Glymphatic-Mediated Tau Clearance Dysfunction
Score: 0.55
Dual-Circuit Tau Vulnerability Cascade
Score: 0.50
Dopaminergic Ventral Tegmental-Hippocampal Circuit Protectio
Score: 0.49
SASP-Mediated Complement Cascade Amplification
Score: 0.70
Transcriptional Autophagy-Lysosome Coupling
Score: 0.66

Related Analyses (23)

Do tau strains or regional cellular environments primarily d
neurodegeneration · failed
4R-tau strain-specific spreading patterns in PSP vs CBD
neurodegeneration · completed
4R-tau strain-specific spreading patterns in PSP vs CBD
neurodegeneration · archived
Autophagy-lysosome pathway convergence across neurodegenerat
neurodegeneration · archived
Protein aggregation cross-seeding across neurodegenerative d
neurodegeneration · archived

Related Experiments (9)

s:** - Test tau spreading in AQP4 knockout vs wild-type mice
falsification · proposed · Score: 0.40
s:** - Compare tau strain spreading in EXT1/EXT2 conditional
falsification · proposed · Score: 0.40
Anti-Tau Antibody vs ASO/Gene Therapy — Comparative Efficacy
validation · proposed · Score: 0.40
Tau PET Pattern as Therapeutic Response Predictor in 4R-Tauo
clinical · proposed · Score: 0.40
Tau depletion effects on neuronal development in primary cul
exploratory · proposed · Score: 0.90