scholarly journals Does the Clinical Phenotype of Fatal Familial Insomnia Depend on PRNP codon 129 Methionine-Valine Polymorphism?

2013 ◽  
Vol 09 (12) ◽  
pp. 1343-1345 ◽  
Author(s):  
Sven Rupprecht ◽  
Alexander Grimm ◽  
Torsten Schultze ◽  
Jan Zinke ◽  
Panagiota Karvouniari ◽  
...  
Keyword(s):  
Clinical Phenotype ◽  
Fatal Familial Insomnia ◽  
Prnp Codon ◽  
Codon 129

Cerebrospinal Fluid Biomarker-Based Diagnosis of Sporadic Creutzfeldt-Jakob Disease: A Validation Study for Previously Established Cutoffs

2017 ◽  
Vol 43 (1-2) ◽  
pp. 71-80 ◽  
Author(s):  
Franc Llorens ◽  
André Karch ◽  
Ewa Golanska ◽  
Matthias Schmitz ◽  
Peter Lange ◽  
...  
Keyword(s):  
Cerebrospinal Fluid ◽  
Negative Correlation ◽  
Disease Duration ◽  
Population Sample ◽  
Clinical Accuracy ◽  
Jakob Disease ◽  
And Control ◽  
Fluid Biomarker ◽  
Prnp Codon ◽  
Codon 129

Background: Several biomarkers have been proposed to discriminate sporadic Creutzfeldt-Jakob disease (sCJD) from other dementias and control cases. However, their clinical accuracy depends on the PRNP codon 129 genotype, leaving it unclear how well established markers behave in untested conditions. Methods: We analyzed 14-3-3, tau, p-tau levels, and the p-tau/tau ratio in a population sample collected from Polish hospitals including nondementia, dementia, and definite sCJD cases and validated their parameters according to previously established cutoffs. Additionally, the correlation between biomarkers and disease duration as well as the influence of the PRNP129 polymorphism are reported. Results: The tau levels and p-tau/tau ratios differed considerably between sCJD and clinically characterized non-CJD cases (p < 0.001). p-tau was only elevated in sCJD when compared to cases without dementia (p < 0.05). Tau and the p-tau/tau ratio showed a sensitivity of 95 and 100%, respectively, in detecting sCJD cases. A negative correlation between tau levels and disease duration, but not the timing of lumbar puncture was observed. Conclusion: The present findings confirmed the value of the p-tau/tau ratio as a robust sCJD biomarker and suggest a role for tau as prognostic marker.

Variant CJD in an individual heterozygous for PRNP codon 129

The Lancet ◽  
2009 ◽  
Vol 374 (9707) ◽  
pp. 2128 ◽  
Author(s):  
Diego Kaski ◽  
Simon Mead ◽  
Harpreet Hyare ◽  
Sarah Cooper ◽  
Ravi Jampana ◽  
...  
Keyword(s):  
Prnp Codon ◽  
Codon 129

Long-duration sCJD with PRNP codon 129 methionine homozygosity and cerebral cortical plaques

Neurology ◽  
2006 ◽  
Vol 66 (12) ◽  
pp. 1944-1945 ◽  
Author(s):  
R. Y.-Y. Lo ◽  
W. C. Shyu ◽  
H. Li
Keyword(s):  
Long Duration ◽  
Prnp Codon ◽  
Codon 129

Preclinical vCJD after blood transfusion in a PRNP codon 129 heterozygous patient

The Lancet ◽  
2004 ◽  
Vol 364 (9433) ◽  
pp. 527-529 ◽  
Author(s):  
Alexander H Peden ◽  
Mark W Head ◽  
L Ritchie Diane ◽  
E Bell Jeanne ◽  
W Ironside James
Keyword(s):  
Blood Transfusion ◽  
Heterozygous Patient ◽  
Prnp Codon ◽  
Codon 129

scholarly journals Variant Creutzfeldt–Jakob Disease in a Patient with Heterozygosity at PRNP Codon 129

2017 ◽  
Vol 376 (3) ◽  
pp. 292-294 ◽  
Author(s):  
Tzehow Mok ◽  
Zane Jaunmuktane ◽  
Susan Joiner ◽  
Tracy Campbell ◽  
Catherine Morgan ◽  
...  
Keyword(s):  
Jakob Disease ◽  
Prnp Codon ◽  
Codon 129
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