Creutzfeldt-Jakob disease with long duration and panencephalopathic lesions: molecular analysis of one case.
A 49-year-old woman presented with isolated aphasia followed by dementia and ataxia with a duration of 4 years. Histopathologically there was panencephalic involvement, status spongiosus, and kuru-type plaques. Molecular analysis showed heterozygosity at codon 129 in the prion protein (PrP) gene, and type 2 protease-resistant PrP. The comparison between this case and those previously reported suggests that the panencephalopathic variant of Creutzfeldt-Jakob disease (CJD) is an aspecific end-stage condition displayed by most if not all CJD variants in individual patients with an unusually prolonged course.
Department of Internal Medicine, Victor Segalen University, Bordeaux, France.
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I
Ghorayeb
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C
Series
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P
Parchi
B
B
Sawan
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Guez
J L
JL
Laplanche
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S
Capellari
P
P
Gambetti
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C
Vital
D001706:Biopsy; D001921:Brain / Q000473:pathology*; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics* / Q000473:pathology*; D005260:Female; D005838:Genotype; D006801:Humans; D007729:Kuru / Q000235:genetics / Q000473:pathology*; D008875:Middle Aged; D009412:Nerve Fibers / Q000473:pathology; D011328:Prions / Q000235:genetics
D011328:Prions