Abstract
The authors describe a patient who had a point mutation at codon 232 of the prion protein gene, resulting in the substitution of methionine for arginine (M232R). The patient developed dementia and died 6 years after its onset. Autopsy revealed dementia with Lewy bodies, not Creutzfeldt-Jakob disease. Although the M232R mutation has been reported to cause Creutzfeldt-Jakob disease, findings in our patient suggest that not all patients presenting progressive dementia with M232R mutation have Creutzfeldt-Jakob disease.
MeSH terms
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Amino Acid Substitution / genetics
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Amyloid / genetics*
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Brain / diagnostic imaging
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Brain / pathology
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Codon / genetics
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Creutzfeldt-Jakob Syndrome / genetics
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Creutzfeldt-Jakob Syndrome / pathology
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Humans
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Lewy Body Disease / diagnostic imaging
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Lewy Body Disease / genetics*
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Lewy Body Disease / pathology
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Magnetic Resonance Imaging
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Male
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Middle Aged
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Point Mutation / genetics*
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Prion Proteins
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Prions
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Protein Precursors / genetics*
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Tomography, Emission-Computed, Single-Photon
Substances
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Amyloid
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Codon
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PRNP protein, human
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Prion Proteins
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Prions
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Protein Precursors