Background: Recent evidence has shown clinical phenotypic heterogeneity of inherited prion diseases, even between patients harbouring the same mutation in the PRNP gene.
Objective and methods: We collected clinical data from a Chinese family with autosomal dominant dementia and screened the PRNP gene on 28 living members. A stereotactic biopsy of the right frontal lobe of the proband was performed.
Results: The family comprised four affected individuals within two successive generations. The age of onset was in 30 or 40 s, and the duration was about 2-3 years. Clinical features of the affected members included neuropsychiatric disturbances, progressive dementia and extrapyramidal symptoms. Immunostaining for prion protein showed fine granular deposits of PrP(sc) in the neuropil. The PRNP gene analysis demonstrated a heterozygous G114V mutation in 15 family members. The proband was diagnosed as familial Creutzfeldt-Jakob disease (fCJD).
Conclusion: This study strengthens the linkage of the G114V mutation to CJD. It supports the worldwide distribution of fCJD despite differences in genetic background.