Transmissible human proteopathies: an expanding field

Published:November 28, 2018DOI:https://doi.org/10.1016/j.mpdhp.2018.11.002

      Abstract

      Prions are considered the prototype of transmissible proteopathies, and this property has for many decades been considered unique. More recently the transmissibility of other misfolded proteins, notably Aβ, tau and synuclein, has been recognized. Initially, the transmission of these proteins was shown experimentally but the relevance for humans was debated. The co-transmission of Aβ with prions through medical procedures involving preparations derived from cadaveric human tissues, such as human growth hormone treatment, dura mater transplants or the use of neurosurgical instruments carrying traces of Aβ protein has fundamentally changed the opinion in the field. In this article, we will summarize the key features of the most common neurodegenerative diseases involving protein misfolding and their established or potential role in disease transmission.

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      References

        • Knowles T.P.
        • Vendruscolo M.
        • Dobson C.M.
        The amyloid state and its association with protein misfolding diseases.
        Nat Rev Mol Cell Biol. 2014; 15: 384-396
        • Weber D.J.
        • Rutala W.A.
        Managing the risk of nosocomial transmission of prion diseases.
        Curr Opin Infect Dis. 2002; 15: 421-425
        • Rutala W.A.
        • Weber D.J.
        Creutzfeldt-Jakob disease: recommendations for disinfection and sterilization.
        Clin Infect Dis. 2001; 32: 1348-1356
        • Rutala W.A.
        • Weber D.J.
        Guideline for disinfection and sterilization of prion-contaminated medical instruments.
        Infect Control Hosp Epidemiol. 2010; 31: 107-117
        • Bradford B.M.
        • Piccardo P.
        • Ironside J.W.
        • Mabbott N.A.
        Human prion diseases and the risk of their transmission during anatomical dissection.
        Clin Anat. 2014; 27: 821-832
        • Montine T.J.
        • Phelps C.H.
        • Beach T.G.
        • et al.
        National Institute on Aging-Alzheimer's Association guidelines for the neuropathologic assessment of Alzheimer's disease: a practical approach.
        Acta Neuropathol. 2012; 123: 1-11
        • Kametani F.
        • Hasegawa M.
        Reconsideration of amyloid hypothesis and tau hypothesis in Alzheimer's disease.
        Front Neurosci. 2018; 12: 25
        • McKee A.C.
        • Cairns N.J.
        • Dickson D.W.
        • et al.
        The first NINDS/NIBIB consensus meeting to define neuropathological criteria for the diagnosis of chronic traumatic encephalopathy.
        Acta Neuropathol. 2016; 131: 75-86
        • Rodrigues e Silva A.M.
        • Geldsetzer F.
        • Holdorff B.
        • et al.
        Who was the man who discovered the "Lewy bodies"?.
        Mov Disord. 2010; 25: 1765-1773
        • Brandner S.
        • Jaunmuktane Z.
        Prion disease: experimental models and reality.
        Acta Neuropathol. 2017; 133: 197-222
        • Duffy P.
        • Wolf J.
        • Collins G.
        • et al.
        Letter: possible person-to-person transmission of Creutzfeldt-Jakob disease.
        N Engl J Med. 1974; 290: 692-693
        • Bernoulli C.
        • Siegfried J.
        • Baumgartner G.
        • et al.
        Danger of accidental person-to-person transmission of Creutzfeldt-Jakob disease by surgery.
        Lancet. 1977; 1: 478-479
        • Brandner S.
        • Whitfield J.
        • Boone K.
        • et al.
        Central and peripheral pathology of kuru: pathological analysis of a recent case and comparison with other forms of human prion disease.
        Philos Trans R Soc Lond B Biol Sci. 2008; 363: 3755-3763
        • Rudge P.
        • Jaunmuktane Z.
        • Adlard P.
        • et al.
        Iatrogenic CJD due to pituitary-derived growth hormone with genetically determined incubation times of up to 40 years.
        Brain. 2015; 138: 3386-3399
        • Beekes M.
        • Thomzig A.
        • Schulz-Schaeffer W.J.
        • Burger R.
        Is there a risk of prion-like disease transmission by Alzheimer- or Parkinson-associated protein particles?.
        Acta Neuropathol. 2014; 128: 463-476
        • Ridley R.M.
        • Baker H.F.
        • Windle C.P.
        • Cummings R.M.
        Very long term studies of the seeding of beta-amyloidosis in primates.
        J Neural Transm (Vienna). 2006; 113: 1243-1251
        • Eisele Y.S.
        • Bolmont T.
        • Heikenwalder M.
        • et al.
        Induction of cerebral beta-amyloidosis: intracerebral versus systemic Abeta inoculation.
        Proc Natl Acad Sci U S A. 2009; 106: 12926-12931
        • Burwinkel M.
        • Lutzenberger M.
        • Heppner F.L.
        • et al.
        Intravenous injection of beta-amyloid seeds promotes cerebral amyloid angiopathy (CAA).
        Acta Neuropathol Commun. 2018; 6: 23
        • Jaunmuktane Z.
        • Mead S.
        • Ellis M.
        • et al.
        Evidence for human transmission of amyloid-beta pathology and cerebral amyloid angiopathy.
        Nature. 2015; 525: 247-250
        • Frontzek K.
        • Lutz M.I.
        • Aguzzi A.
        • et al.
        Amyloid-beta pathology and cerebral amyloid angiopathy are frequent in iatrogenic Creutzfeldt-Jakob disease after dural grafting.
        Swiss Med Wkly. 2016; 146: w14287
        • Ritchie D.L.
        • Adlard P.
        • Peden A.H.
        • et al.
        Amyloid-beta accumulation in the CNS in human growth hormone recipients in the UK.
        Acta Neuropathol. 2017; 134: 221-240
        • Hamaguchi T.
        • Taniguchi Y.
        • Sakai K.
        • et al.
        Significant association of cadaveric dura mater grafting with subpial Abeta deposition and meningeal amyloid angiopathy.
        Acta Neuropathol. 2016; 132: 313-315
        • Duyckaerts C.
        • Sazdovitch V.
        • Ando K.
        • et al.
        Neuropathology of iatrogenic Creutzfeldt-Jakob disease and immunoassay of French cadaver-sourced growth hormone batches suggest possible transmission of tauopathy and long incubation periods for the transmission of Abeta pathology.
        Acta Neuropathol. 2018; 135: 201-212
        • Cali I.
        • Cohen M.L.
        • Hasmall yi U.S.
        • et al.
        Iatrogenic Creutzfeldt-Jakob disease with Amyloid-beta pathology: an international study.
        Acta Neuropathol Commun. 2018; 6: 5
        • Jaunmuktane Z.
        • Quaegebeur A.
        • Taipa R.
        • et al.
        Evidence of amyloid-beta cerebral amyloid angiopathy transmission through neurosurgery.
        Acta Neuropathol. 2018; 15: 018-1822
        • Herve D.
        • Porche M.
        • Cabrejo L.
        • et al.
        Fatal Abeta cerebral amyloid angiopathy 4 decades after a dural graft at the age of 2 years.
        Acta Neuropathol. 2018; 135: 801-803
        • Irwin D.J.
        • Abrams J.Y.
        • Schonberger L.B.
        • et al.
        Evaluation of potential infectivity of Alzheimer and Parkinson disease proteins in recipients of cadaver-derived human growth hormone.
        JAMA Neurol. 2013; 70: 462-468
        • Kovacs G.G.
        • Lutz M.I.
        • Ricken G.
        • et al.
        Dura mater is a potential source of Abeta seeds.
        Acta Neuropathol. 2016; 131: 911-923
        • Smethurst P.
        • Newcombe J.
        • Troakes C.
        • et al.
        In vitro prion-like behaviour of TDP-43 in ALS.
        Neurobiol Dis. 2016; 96: 236-247
        • Darby S.C.
        • Kan S.W.
        • Spooner R.J.
        • et al.
        Mortality rates, life expectancy, and causes of death in people with hemophilia A or B in the United Kingdom who were not infected with HIV.
        Blood. 2007; 110: 815-825
        • O'Meara E.S.
        • Kukull W.A.
        • Schellenberg G.D.
        • et al.
        Alzheimer's disease and history of blood transfusion by apolipoprotein-E genotype.
        Neuroepidemiology. 1997; 16: 86-93
        • Kokmen E.
        • Beard C.M.
        • O'Brien P.C.
        • Kurland L.T.
        Epidemiology of dementia in Rochester, Minnesota.
        Mayo Clin Proc. 1996; 71: 275-282
        • Bohnen N.I.
        • Warner M.A.
        • Kokmen E.
        • et al.
        Prior blood transfusions and Alzheimer's disease.
        Neurology. 1994; 44: 1159-1160
        • Edgeworth J.A.
        • Sicilia A.
        • Linehan J.
        • et al.
        A standardized comparison of commercially available prion decontamination reagents using the Standard Steel-Binding Assay.
        J Gen Virol. 2011; 92: 718-726
        • Jackson G.S.
        • McKintosh E.
        • Flechsig E.
        • et al.
        An enzyme-detergent method for effective prion decontamination of surgical steel.
        J Gen Virol. 2005; 86: 869-878
        • Fritschi S.K.
        • Cintron A.
        • Ye L.
        • et al.
        Abeta seeds resist inactivation by formaldehyde.
        Acta Neuropathol. 2014; 128: 477-484
        • Fenyi A.
        • Coens A.
        • Bellande T.
        • et al.
        Assessment of the efficacy of different procedures that remove and disassemble alpha-synuclein, tau and A-beta fibrils from laboratory material and surfaces.
        Sci Rep. 2018; 8: 10788
        • Thomzig A.
        • Wagenfuhr K.
        • Daus M.L.
        • et al.
        Decontamination of medical devices from pathological amyloid-beta-, tau- and alpha-synuclein aggregates.
        Acta Neuropathol Commun. 2014; 2: 151
        • Bousset L.
        • Brundin P.
        • Bockmann A.
        • et al.
        An efficient procedure for removal and inactivation of alpha-synuclein assemblies from laboratory materials.
        J Parkinsons Dis. 2016; 6: 143-151
        • Phan H.T.M.
        • Bartz J.C.
        • Ayers J.
        • et al.
        Adsorption and decontamination of alpha-synuclein from medically and environmentally-relevant surfaces.
        Colloids Surf B Biointerfaces. 2018; 166: 98-107