A Patient With Creutzfeldt-Jakob Disease With an Insertion of 7 Octa-Repeats in the PRNP Gene: Molecular Characteristics and Clinical Features

We evaluated the features of neuropathology, abnormal prion protein (PrP) molecules, and clinical data of a Chinese woman diagnosed with familiar Creutzfeldt-Jakob disease (CJD), having 7 octa-repeats inserted with codon 129 methionine homozygote in the PRNP gene. Neuropathologic characteristics of...

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Veröffentlicht in:	The American journal of the medical sciences 2008-12, Vol.336 (6), p.519-523
Hauptverfasser:	Guo, Yan-Jun, Wang, Xiao-Fan, Han, Jun, Zhang, Bao-Yun, Shi, Qi, Wan, Yan-Zhen, Gao, Chen, Dong, Xiao-Ping, Zhao, Wei-Qin, Li, Ji-Mei, Wang, De-Xin
Format:	Artikel
Sprache:	eng
Schlagworte:	Astrocytes Base pairs Biological and medical sciences Brain Cerebral Cortex - chemistry Cerebral Cortex - pathology Codons Creutzfeldt-Jakob disease Creutzfeldt-Jakob Syndrome - genetics Creutzfeldt-Jakob Syndrome - pathology Creutzfeldt-Jakob Syndrome - physiopathology Data processing Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Deglycosylation Deposits Endopeptidase K Fatal Outcome Female General aspects Gliosis Glycosylation Homozygotes Humans Isomers Medical sciences Methionine Microscopy Neurodegeneration Neurology Neurons Neuropathology Nucleotides Octapeptide Prion protein Prions - genetics Prions - metabolism Proteinase Proteinase K-resistant prion protein Proteolysis Repetitive Sequences, Nucleic Acid Stains
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