Abstract
We describe 2 patients of Jewish Libyan descent, who presented with a clinical syndrome compatible with Creutzfeldt-Jakob disease and who were found to have a mutation of codon 200 in the prion protein. The patients developed symptoms and signs of peripheral nerve involvement diagnosed by electrodiagnostic and histopathological studies as demyelinating neuropathy. This may be a rare manifestation of Creutzfeldt-Jakob disease.
MeSH terms
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Action Potentials
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Codon
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Creutzfeldt-Jakob Syndrome / complications*
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Creutzfeldt-Jakob Syndrome / genetics
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Demyelinating Diseases / complications*
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Demyelinating Diseases / diagnosis
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Demyelinating Diseases / genetics
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Electrodiagnosis
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Electromyography
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Humans
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Male
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Middle Aged
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Muscles / physiopathology
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Mutation
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Nerve Tissue Proteins / genetics
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Neural Conduction
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Peripheral Nervous System Diseases / complications*
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Peripheral Nervous System Diseases / diagnosis
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Peripheral Nervous System Diseases / genetics
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PrPSc Proteins
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Prions / genetics
Substances
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Codon
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Nerve Tissue Proteins
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PrPSc Proteins
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Prions