Abstract
A two-octapeptide repeat deletion of the prion protein gene has been recently observed in a patient with a 2-year history of dementia and a clinical diagnosis of possible Creutzfeldt-Jakob disease (CJD). The authors report a similar deletion in a patient with a definitive diagnosis of CJD. Since the two-repeat deletion has not been observed in large, population-based studies, the two cases suggest that this deletion is a new pathogenic mutation associated with CJD.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Autopsy
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Blotting, Western
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Brain / pathology
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Creutzfeldt-Jakob Syndrome / genetics*
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Creutzfeldt-Jakob Syndrome / psychology
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Electroencephalography
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Gene Deletion
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Head Injuries, Closed / pathology
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Humans
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Immunohistochemistry
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Magnetic Resonance Imaging
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Male
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Memory Disorders / etiology
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Memory Disorders / pathology
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Middle Aged
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Polymorphism, Genetic / genetics
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Prions / genetics*
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Repetitive Sequences, Nucleic Acid / genetics
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Tomography, X-Ray Computed