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Research ArticleGenetics Vignette

Inherited Forms of Creutzfeldt-Jakob Disease

A.J. Degnan and L.M. Levy
American Journal of Neuroradiology September 2013, 34 (9) 1690-1691; DOI: https://doi.org/10.3174/ajnr.A3580
A.J. Degnan
aFrom the University of Pittsburgh Medical Center (A.J.D.), Pittsburgh, Pennsylvania
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L.M. Levy
bGeorge Washington University Medical Center (L.M.L.), Washington, DC.
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REFERENCES

  1. 1.↵
    1. Prusiner SB
    . Biology and genetics of prion diseases. Annu Rev Microbiol 1994;48:655–86
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    1. Mouillet-Richard S,
    2. Ermonval M,
    3. Chebassier C,
    4. et al
    . Signal transduction through prion protein. Science 2000;289:1925–28
    Abstract/FREE Full Text
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    1. Combarros O,
    2. Sanchez-Guerra M,
    3. Llorca J,
    4. et al
    . Polymorphism at codon 129 of the prion protein gene is not associated with sporadic AD. Neurology 2000;55:593–95
    CrossRef
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    1. Croes EA,
    2. Dermaut B,
    3. Houwing-Duistermaat JJ,
    4. et al
    . Early cognitive decline is associated with prion protein codon 129 polymorphism. Ann Neurol 2003;54:275–76
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    1. Riemenschneider M,
    2. Klopp N,
    3. Xiang W,
    4. et al
    . Prion protein codon 129 polymorphism and risk of Alzheimer disease. Neurology 2004;63:364–66
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    1. Puoti G,
    2. Bizzi A,
    3. Forloni G,
    4. et al
    . Sporadic human prion diseases: molecular insights and diagnosis. Lancet Neurol 2012;11:618–28
    CrossRefPubMedWeb of Science
  7. 7.↵
    1. Head MW,
    2. Ironside JW
    . Review: Creutzfeldt-Jakob disease: prion protein type, disease phenotype and agent strain. Neuropathol Appl Neurobiol 2012;38:296–310
    CrossRefPubMed
  8. 8.↵
    1. Mead S,
    2. Whitfield J,
    3. Poulter M,
    4. et al
    . A novel protective prion protein variant that colocalizes with kuru exposure. N Engl J Med 2009;361:2056–65
    CrossRefPubMedWeb of Science
  9. 9.↵
    1. Colombo R
    . Age and origin of the PRNP E200K mutation causing familial Creutzfeldt-Jacob disease in Libyan Jews. Am J Hum Genet 2000;67:528–31
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  10. 10.↵
    1. Schelzke G,
    2. Kretzschmar HA,
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    . Clinical aspects of common genetic Creutzfeldt-Jakob disease. Eur J Epidemiol 2012;27:147–49
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  11. 11.↵
    1. Kovács GG,
    2. Puopolo M,
    3. Ladogana A,
    4. et al
    . Genetic prion disease: the EUROCJD experience. Hum Genet 2005;118:166–74
    CrossRefPubMedWeb of Science
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American Journal of Neuroradiology: 34 (9)
American Journal of Neuroradiology
Vol. 34, Issue 9
1 Sep 2013
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Inherited Forms of Creutzfeldt-Jakob Disease
A.J. Degnan, L.M. Levy
American Journal of Neuroradiology Sep 2013, 34 (9) 1690-1691; DOI: 10.3174/ajnr.A3580

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Inherited Forms of Creutzfeldt-Jakob Disease
A.J. Degnan, L.M. Levy
American Journal of Neuroradiology Sep 2013, 34 (9) 1690-1691; DOI: 10.3174/ajnr.A3580
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  • Article
    • ABBREVIATIONS:
    • Introduction
    • What is the Normal Function of the Prion Protein?
    • How Does Abnormal Prion Protein Cause Disease?
    • What are the Genetics of Familial CJD?
    • What Are Some Forms of Familial CJD?
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