Abstract
An atypical case of sporadic Creutzfeldt-Jakob disease (CJD) is described in a 78-year-old woman homozygous for methionine at codon 129 of the prion protein (PrP) gene. The neuropathological signature was the presence of PrP immunoreactive plaque-like deposits in the cerebral cortex, striatum and thalamus. Western blot analysis showed a profile of the pathological form of PrP (PrP(Sc)) previously unrecognised in sporadic CJD, marked by the absence of diglycosylated protease resistant species. These features define a novel neuropathological and molecular CJD phenotype.
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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Aged
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Antibodies / immunology
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Antibodies, Monoclonal / immunology
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Antiparkinson Agents / therapeutic use
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Blotting, Western
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Brain / immunology
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Brain / pathology
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Codon / genetics
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Creutzfeldt-Jakob Syndrome / diagnosis
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Creutzfeldt-Jakob Syndrome / genetics*
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Creutzfeldt-Jakob Syndrome / immunology
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Female
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Humans
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Immunohistochemistry
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Levodopa / therapeutic use
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Magnetic Resonance Imaging
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Methionine / genetics
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Parkinsonian Disorders / drug therapy
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Phenotype
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Polymorphism, Genetic / genetics
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PrPSc Proteins / genetics*
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PrPSc Proteins / immunology
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Valine / genetics
Substances
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Antibodies
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Antibodies, Monoclonal
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Antiparkinson Agents
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Codon
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PrPSc Proteins
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Levodopa
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Methionine
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Valine