A Patient With Creutzfeldt-Jakob Disease With an Insertion of 7 Octa-Repeats in the PRNP Gene: Molecular Characteristics and Clinical Features

Sporadic CJD-like neuropathologic changes and deposits of proteinase K-resistant PrP have been identified in this familiar CJD case with a 168 base pair nucleotide insertion. The clinical features differ from previously reported cases that had 7 octa-repeat insertion, but bear similarities to sporadic CJD.