Contents

Familial Creutzfeldt-Jakob Disease (fCJD)

Disease Info

Prevalence	Approximately 1-2 cases per 10 million population annually
Complete penetrance	Most PRNP mutations show complete penetrance by age 70
Age-dependent	Disease typically presents in middle to late adulthood
Q212P	Incomplete penetrance reported
PRNP codon 129	Modifies disease phenotype and age of onset
Mutation-specific patterns	Different mutations produce characteristic clinical presentations [3]
Proportion	5-15% of all CJD cases
Age of onset	Typically 40-70 years, varying by mutation
Family history	Present in most cases, though may be unknown
Spongiform change	Vacuolation of neuropil, particularly in cerebral cortex and basal ganglia
Neuronal loss	Progressive degeneration of neurons
Prion deposition	PrP^Sc aggregates in various patterns
Databases	OMIM Orphanet ClinicalTrials PubMed

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