Different patterns of truncated prion protein fragments correlate with distinct phenotypes in P102L Gerstmann–Sträussler–Scheinker disease

DOI Web Site 被引用文献6件
  • Piero Parchi
    Division of Neuropathology, Institute of Pathology, Case Western Reserve University, Cleveland, Ohio 44106; Laboratory of Central Nervous System Studies, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892; Institute of Neurology, University of Vienna, A-1097 Vienna, Austria, and Austrian Reference Center for Human Prion Diseases, AKH, Vienna, Austria; Laboratoire de Neuropathologie R. Escourolle, Hopital de la Salpetriere, 75651 Paris, France;...
  • Shu G. Chen
    Division of Neuropathology, Institute of Pathology, Case Western Reserve University, Cleveland, Ohio 44106; Laboratory of Central Nervous System Studies, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892; Institute of Neurology, University of Vienna, A-1097 Vienna, Austria, and Austrian Reference Center for Human Prion Diseases, AKH, Vienna, Austria; Laboratoire de Neuropathologie R. Escourolle, Hopital de la Salpetriere, 75651 Paris, France;...
  • Paul Brown
    Division of Neuropathology, Institute of Pathology, Case Western Reserve University, Cleveland, Ohio 44106; Laboratory of Central Nervous System Studies, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892; Institute of Neurology, University of Vienna, A-1097 Vienna, Austria, and Austrian Reference Center for Human Prion Diseases, AKH, Vienna, Austria; Laboratoire de Neuropathologie R. Escourolle, Hopital de la Salpetriere, 75651 Paris, France;...
  • Wenquan Zou
    Division of Neuropathology, Institute of Pathology, Case Western Reserve University, Cleveland, Ohio 44106; Laboratory of Central Nervous System Studies, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892; Institute of Neurology, University of Vienna, A-1097 Vienna, Austria, and Austrian Reference Center for Human Prion Diseases, AKH, Vienna, Austria; Laboratoire de Neuropathologie R. Escourolle, Hopital de la Salpetriere, 75651 Paris, France;...
  • Sabina Capellari
    Division of Neuropathology, Institute of Pathology, Case Western Reserve University, Cleveland, Ohio 44106; Laboratory of Central Nervous System Studies, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892; Institute of Neurology, University of Vienna, A-1097 Vienna, Austria, and Austrian Reference Center for Human Prion Diseases, AKH, Vienna, Austria; Laboratoire de Neuropathologie R. Escourolle, Hopital de la Salpetriere, 75651 Paris, France;...
  • Herbert Budka
    Division of Neuropathology, Institute of Pathology, Case Western Reserve University, Cleveland, Ohio 44106; Laboratory of Central Nervous System Studies, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892; Institute of Neurology, University of Vienna, A-1097 Vienna, Austria, and Austrian Reference Center for Human Prion Diseases, AKH, Vienna, Austria; Laboratoire de Neuropathologie R. Escourolle, Hopital de la Salpetriere, 75651 Paris, France;...
  • Johannes Hainfellner
    Division of Neuropathology, Institute of Pathology, Case Western Reserve University, Cleveland, Ohio 44106; Laboratory of Central Nervous System Studies, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892; Institute of Neurology, University of Vienna, A-1097 Vienna, Austria, and Austrian Reference Center for Human Prion Diseases, AKH, Vienna, Austria; Laboratoire de Neuropathologie R. Escourolle, Hopital de la Salpetriere, 75651 Paris, France;...
  • Patricio F. Reyes
    Division of Neuropathology, Institute of Pathology, Case Western Reserve University, Cleveland, Ohio 44106; Laboratory of Central Nervous System Studies, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892; Institute of Neurology, University of Vienna, A-1097 Vienna, Austria, and Austrian Reference Center for Human Prion Diseases, AKH, Vienna, Austria; Laboratoire de Neuropathologie R. Escourolle, Hopital de la Salpetriere, 75651 Paris, France;...
  • Gregory T. Golden
    Division of Neuropathology, Institute of Pathology, Case Western Reserve University, Cleveland, Ohio 44106; Laboratory of Central Nervous System Studies, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892; Institute of Neurology, University of Vienna, A-1097 Vienna, Austria, and Austrian Reference Center for Human Prion Diseases, AKH, Vienna, Austria; Laboratoire de Neuropathologie R. Escourolle, Hopital de la Salpetriere, 75651 Paris, France;...
  • Jean J. Hauw
    Division of Neuropathology, Institute of Pathology, Case Western Reserve University, Cleveland, Ohio 44106; Laboratory of Central Nervous System Studies, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892; Institute of Neurology, University of Vienna, A-1097 Vienna, Austria, and Austrian Reference Center for Human Prion Diseases, AKH, Vienna, Austria; Laboratoire de Neuropathologie R. Escourolle, Hopital de la Salpetriere, 75651 Paris, France;...
  • D. Carleton Gajdusek
    Division of Neuropathology, Institute of Pathology, Case Western Reserve University, Cleveland, Ohio 44106; Laboratory of Central Nervous System Studies, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892; Institute of Neurology, University of Vienna, A-1097 Vienna, Austria, and Austrian Reference Center for Human Prion Diseases, AKH, Vienna, Austria; Laboratoire de Neuropathologie R. Escourolle, Hopital de la Salpetriere, 75651 Paris, France;...
  • Pierluigi Gambetti
    Division of Neuropathology, Institute of Pathology, Case Western Reserve University, Cleveland, Ohio 44106; Laboratory of Central Nervous System Studies, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892; Institute of Neurology, University of Vienna, A-1097 Vienna, Austria, and Austrian Reference Center for Human Prion Diseases, AKH, Vienna, Austria; Laboratoire de Neuropathologie R. Escourolle, Hopital de la Salpetriere, 75651 Paris, France;...

書誌事項

公開日
1998-07-07
DOI
  • 10.1073/pnas.95.14.8322
公開者
Proceedings of the National Academy of Sciences

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説明

<jats:p> The clinicopathological phenotype of the Gerstmann–Sträussler–Scheinker disease (GSS) variant linked to the codon 102 mutation in the prion protein (PrP) gene (GSS P102L) shows a high heterogeneity. This variability also is observed in subjects with the same prion protein gene <jats:italic>PRNP</jats:italic> haplotype and is independent from the duration of the disease. Immunoblot analysis of brain homogenates from GSS P102L patients showed two major protease-resistant PrP fragments (PrP-res) with molecular masses of ≈21 and 8 kDa, respectively. The 21-kDa fragment, similar to the PrP-res type 1 described in Creutzfeldt–Jakob disease, was found in five of the seven subjects and correlated with the presence of spongiform degeneration and “synaptic” pattern of PrP deposition whereas the 8-kDa fragment, similar to those described in other variants of GSS, was found in all subjects in brain regions showing PrP-positive multicentric amyloid deposits. These data further indicate that the neuropathology of prion diseases largely depends on the type of PrP-res fragment that forms <jats:italic>in vivo</jats:italic> . Because the formation of PrP-res fragments of 7–8 kDa with ragged N and C termini is not a feature of Creutzfeldt–Jakob disease or fatal familial insomnia but appears to be shared by most GSS subtypes, it may represent a molecular marker for this disorder. </jats:p>

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