Heterozygosity at Polymorphic Codon 219 in Variant Creutzfeldt-Jakob Disease
نویسندگان
چکیده
منابع مشابه
Codon 219 in Creutzfeldt-Jakob disease in Poland.
Prion diseases are a group of etiologically heterogenous diseases. In addition to familial cases linked to mutations of PRNP open reading frame they include also cases of unknown etiology. One of the susceptibility factors to sporadic as well as iatrogenic prion diseases are PRNP polymorphisms. In the present study, we analyzed sequences of the PRNP gene codon 219 of 16 Polish CJD cases and we ...
متن کاملVariant Creutzfeldt-Jakob disease.
Current evidence indicates that variant Creutzfeldt-Jakob disease is caused by the transmission of bovine spongiform encephalopathy to humans. The clinical and investigative features of variant CJD are relatively distinct from sporadic CJD and the neuropathological appearances are novel. The number of cases of vCJD in the UK may have peaked, but the total future number of cases of vCJD is uncer...
متن کاملGenetic Creutzfeldt-Jakob disease mimicking variant Creutzfeldt-Jakob disease.
The ‘‘pulvinar sign’’ on MRI brain scan is defined as hyperintensity of the posterior thalamus relative to the signal intensity of the anterior putamen. In the appropriate clinical context, the pulvinar sign and hyperintensity in the dorsomedial thalamic nuclei (the hockey stick sign) are sensitive and specific features of variant Creutzfeldt– Jakob disease (vCJD). Variant CJD is an acquired fo...
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BACKGROUND The determination of the form of prion disease and early diagnosis are important for prognostic, public health, and epidemiologic reasons. OBJECTIVE To describe a patient with sporadic Creutzfeldt-Jakob disease (sCJD) who had a clinical history and initial electroencephalogram and magnetic resonance imaging findings consistent with variant CJD (vCJD). RESULTS Results of a repeate...
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New variant Creutzfeldt-Jakob disease is a novel human prion disorder with characteristic clinical and neuropathological features, which results from exposure to the bovine spongiform encephalopathy agent. The probably lengthy incubation period makes it difficult to predict future new variant Creutzfeldt-Jakob disease case numbers; further studies are required to clarify risk factors and the po...
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ژورنال
عنوان ژورنال: Archives of Neurology
سال: 2010
ISSN: 0003-9942
DOI: 10.1001/archneurol.2010.184