Contents

PSP Genetic Variants

Disease Info

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	OMIM Orphanet ClinicalTrials PubMed

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