Familial prion disease with a novel serine to isoleucine mutation at codon 132 of prion protein gene (PRNP)

摘要

Prion diseases are progressive, fatal neurodegenerative disorders that are characterized pathologically by spongiform change and/or abnormal prion protein accumulation in the brain. Most cases are sporadic, but some are acquired (e.g. in pituitary hormone and dura mater recipients) and others are inherited, associated with mutations or insertions in the prion protein gene (PRNP). Familial forms of human prion disease make up 10-15% of the total number cases, and follow a dominant pattern of inheritance with a high penetrance.