Please use this identifier to cite or link to this item: http://hdl.handle.net/2445/168998
Title: Hereditary Human Prion Diseases: an Update
Author: Schmitz, Matthias
Dittmar, Kathrin
Llorens Torres, Franc
Gelpi, Ellen
Ferrer, Isidro (Ferrer Abizanda)
Schulz-Schaeffer, Walter J.
Zerr, Inga
Keywords: Malalties per prions
Malalties hereditàries
Prion diseases
Genetic diseases
Issue Date: 2017
Publisher: Humana Press.
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 octapeptide 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.
Note: Versió postprint del document publicat a: https://doi.org/10.1007/s12035-016-9918-y
It is part of: Molecular Neurobiology, 2017, vol. 54, p. 4138-4149
URI: http://hdl.handle.net/2445/168998
Related resource: https://doi.org/10.1007/s12035-016-9918-y
ISSN: 0893-7648
Appears in Collections:Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer)
Articles publicats en revistes (Patologia i Terapèutica Experimental)

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