The genetic Creutzfeldt-Jakob disease with E200K mutation: analysis of clinical, genetic and laboratory features of 30 Chinese patients
نویسندگان
چکیده
منابع مشابه
Clinical features of genetic Creutzfeldt-Jakob disease with V180I mutation in the prion protein gene
OBJECTIVES Genetic Creutzfeldt-Jakob disease (CJD) due to V180I mutation in the prion protein gene (PRNP) is of great interest because of the differences from sporadic CJD and other genetic prion diseases in terms of clinical features, as well as pathological and biochemical findings. However, few systematic observations about the clinical features in patients with this unique mutation have bee...
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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...
متن کاملFatal Prion Disease in a Mouse Model of Genetic E200K Creutzfeldt-Jakob Disease
Genetic prion diseases are late onset fatal neurodegenerative disorders linked to pathogenic mutations in the prion protein-encoding gene, PRNP. The most prevalent of these is the substitution of Glutamate for Lysine at codon 200 (E200K), causing genetic Creutzfeldt-Jakob disease (gCJD) in several clusters, including Jews of Libyan origin. Investigating the pathogenesis of genetic CJD, as well ...
متن کاملCorrection: Fatal Prion Disease in a Mouse Model of Genetic E200K Creutzfeldt-Jakob Disease
[This corrects the article DOI: 10.1371/journal.ppat.1002350.].
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in current study, 63 samples of bat populations collected from differ regions were used for evaluating the geographic variations. twenty cranial and dental characters for traditional morphometric and landmarks method on the ventral, dorsal skull and mandible for geometry morphometric studies were used. statistical analyses of traditional morphometric and geometry morphometric data indicated low...
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ژورنال
عنوان ژورنال: Scientific Reports
سال: 2019
ISSN: 2045-2322
DOI: 10.1038/s41598-019-38520-y