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Review
. 2017 Aug;54(6):4138-4149.
doi: 10.1007/s12035-016-9918-y. Epub 2016 Jun 20.

Hereditary Human Prion Diseases: an Update

Matthias Schmitz  1   2 , Kathrin Dittmar  3 , Franc Llorens  3 , Ellen Gelpi  4 , Isidre Ferrer  5 , Walter J Schulz-Schaeffer  6 , Inga Zerr  3
Affiliations
Free article
Review

Hereditary Human Prion Diseases: an Update

Matthias Schmitz et al. Mol Neurobiol. 2017 Aug.
Free article

Abstract

Prion diseases in humans are neurodegenerative diseases which are caused by an accumulation of abnormal, misfolded cellular prion protein known as scrapie prion protein (PrPSc). Genetic, acquired, or spontaneous (sporadic) forms are known. Pathogenic mutations in the human prion protein gene (PRNP) have been identified in 10-15 % of CJD patients. These mutations may be single point mutations, STOP codon mutations, or insertions or deletions of octa-peptide repeats. Some non-coding mutations and new mutations in the PrP gene have been identified without clear evidence for their pathogenic significance. In the present review, we provide an updated overview of PRNP mutations, which have been documented in the literature until now, describe the change in the DNA, the family history, the pathogenicity, and the number of described cases, which has not been published in this complexity before. We also provide a description of each genetic prion disease type, present characteristic histopathological features, and the PrPSc isoform expression pattern of various familial/genetic prion diseases.

Keywords: Creutzfeldt-Jakob disease; Fatal familial insomnia; Gerstmann-Sträussler-Scheinker syndrome; Hereditary human prion diseases.

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References

    1. Am J Hum Genet. 2001 Dec;69(6):1385-8 - PubMed
    1. Hum Genet. 2005 Nov;118(2):166-74 - PubMed
    1. Neurology. 1998 Nov;51(5):1398-405 - PubMed
    1. N Engl J Med. 2009 Nov 19;361(21):2056-65 - PubMed
    1. Lancet Neurol. 2003 Mar;2(3):167-76 - PubMed

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