Hereditary Human Prion Diseases: an Update.
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 PrPScisoform expression pattern of various familial/genetic prion diseases.
Department of Neurology, University Medical Center Göttingen and the German Center for Neurodegenerative Diseases (DZNE), Göttingen, Germany. matthias.schmitz@med.uni-goettingen.de.|Department of Neuropathology, Georg-August University, Göttingen, Robert-Koch-Str. 40, 37075, Göttingen, Germany. matthias.schmitz@med.uni-goettingen.de.
Matthias
M
Schmitz
Department of Neurology, University Medical Center Göttingen and the German Center for Neurodegenerative Diseases (DZNE), Göttingen, Germany.
Kathrin
K
Dittmar
Department of Neurology, University Medical Center Göttingen and the German Center for Neurodegenerative Diseases (DZNE), Göttingen, Germany.
Franc
F
Llorens
Neurological Tissue Bank, Biobanc-Hospital Clinic-IDIBAPS, Barcelona, Spain.
Ellen
E
Gelpi
Institute of Neuropathology, Bellvitge University Hospital, CIBERNED, Hospitalet de Llobregat, University of Barcelona, Barcelona, Spain.
Isidre
I
Ferrer
Department of Neuropathology, Georg-August University, Göttingen, Robert-Koch-Str. 40, 37075, Göttingen, Germany.
Walter J
WJ
Schulz-Schaeffer
Department of Neurology, University Medical Center Göttingen and the German Center for Neurodegenerative Diseases (DZNE), Göttingen, Germany.
Inga
I
Zerr
D006801:Humans; D040582:Inheritance Patterns / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D017096:Prion Diseases / Q000235:genetics* / Q000473:pathology; D000072002:Prion Proteins / Q000235:genetics*
D000072002:Prion Proteins
Creutzfeldt-Jakob disease; Fatal familial insomnia; Gerstmann-Sträussler-Scheinker syndrome; Hereditary human prion diseases