Abstract
The authors investigated two unrelated patients with Creutzfeldt-Jakob disease (CJD) with clinical features of sporadic CJD (sCJD) carrying one extra octapeptide repeat in the prion protein (PrP) gene (PRNP). A synaptic type PrP distribution throughout the cerebral gray matter and plaque-like PrP deposits in the subcortical gray structures were detected immunocytochemically. The different patterns of PrP deposition were associated with distinct types of protease-resistant PrP, similar to type 1 and type 2 of sCJD. The features suggest that this insertion is a pathogenic mutation.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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14-3-3 Proteins
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Amyloid / genetics*
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Brain / pathology
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Brain Chemistry
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Creutzfeldt-Jakob Syndrome / cerebrospinal fluid
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Creutzfeldt-Jakob Syndrome / diagnosis
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Creutzfeldt-Jakob Syndrome / genetics*
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Electroencephalography
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Endopeptidases / chemistry
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Heterozygote
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Homozygote
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Humans
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Immunoblotting
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Immunohistochemistry
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Male
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Middle Aged
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Mutation
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Polymerase Chain Reaction
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Prion Proteins
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Prions / chemistry
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Prions / genetics*
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Protein Precursors / genetics*
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Tyrosine 3-Monooxygenase / cerebrospinal fluid
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tau Proteins / cerebrospinal fluid
Substances
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14-3-3 Proteins
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Amyloid
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PRNP protein, human
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Prion Proteins
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Prions
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Protein Precursors
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tau Proteins
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Tyrosine 3-Monooxygenase
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Endopeptidases