Extra-repeat insertional mutation in the PRNP gene with cerebral amyloid angiopathy: A case report
JOURNAL OF THE NEUROLOGICAL SCIENCES(2021)
摘要
Cerebral amyloid angiopathy (CAA), a major cause of spontaneous intracerebral haemorrhage and cognitive decline, has been documented in some forms of prion diseases (PrDs). Octapeptide Repeat Insertions (OPRIs) in the prion protein gene (PRNP) are mutations associated with genetic prion diseases (gPrDs). This is the first report of a patient with rapidly progressive dementia, carrying one OPRI in the PRNP gene and neuroimaging features consistent with CAA.
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关键词
cerebral amyloid angiopathy,prnp gene,extra-repeat
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