Carregant...
Fitxers
Tipus de document
ArticleVersió
Versió acceptadaData de publicació
Tots els drets reservats
Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/168998
Hereditary Human Prion Diseases: an Update
Títol de la revista
Director/Tutor
ISSN de la revista
Títol del volum
Recurs relacionat
Resum
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.
Matèries (anglès)
Citació
Citació
SCHMITZ, Matthias, DITTMAR, Kathrin, LLORENS TORRES, Franc, GELPI, Ellen, FERRER, Isidro (ferrer abizanda), SCHULZ-SCHAEFFER, Walter j., ZERR, Inga. Hereditary Human Prion Diseases: an Update. _Molecular Neurobiology_. 2017. Vol. 54, núm. 4138-4149. [consulta: 21 de gener de 2026]. ISSN: 0893-7648. [Disponible a: https://hdl.handle.net/2445/168998]