The first Chinese case of Creutzfeldt-Jakob disease with mutation of E200K in PRNP / 生物医学与环境科学(英文)
Biomedical and Environmental Sciences
;
(12): 158-160, 2010.
Article
in English
| WPRIM
| ID: wpr-360609
ABSTRACT
<p><b>OBJECTIVE</b>To investigate epidemiological, clinical and genetic features of the first Chinese case of Creutzfeldt-Jakob disease (CJD ) with mutation of E200K in PRNP.</p><p><b>METHODS</b>The general epidemiological and clinical data were collected; CSF 14-3-3 protein was analyzed by Western blot; The PRNP was amplified by PCR and analyzed.</p><p><b>RESULTS</b>A missense mutation in codon 200 (E200K) of the PRNP was identified in this patient; CSF 14-3-3 protein was positive; sleep disturbance was the initial sign and the other symptoms gradually appeared, including memory loss, dizziness and ataxia.</p><p><b>CONCLUSION</b>The CJD patient who was first reported in China has a missense mutation in codon 200 (E200K) of the PRNP, and the codon 129 is a methionine homozygous genotype.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Prions
/
China
/
Creutzfeldt-Jakob Syndrome
/
Mutation, Missense
/
Asian People
/
Prion Proteins
/
Genetics
Type of study:
Prognostic study
Limits:
Humans
/
Male
Country/Region as subject:
Asia
Language:
English
Journal:
Biomedical and Environmental Sciences
Year:
2010
Type:
Article
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