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Gerstmann-Sträussler-Scheinker Disease

  • Paweł P. Liberski
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 724)

Abstract

Gerstmann-Sträussler-Scheinker (GSS) is a slowly progressive hereditary autosomal dominant disease (OMIM: 137440) and the first human transmissible spongiform encephalopathy (TSE) in which a mutation in a gene encoding for prion protein (PrP) was discovered. The first “H” family had been known by the Viennese neuropsychiatrists since the XXth century and was reported by Gerstmann, Sträussler and Scheinker in 1936. In this chapter we present the clinical, neuropathological and molecular data on GSS with the mutations in the PRNP gene: at codons 102, 105, 117, 131, 145, 187, 198, 202, 212, 217 and 232. In several families with GSS the responsible mutations are unknown.

Keywords

Neurodegenerative Disease Prion Protein Neurol Neurosurg Psychiatry Autosomal Dominant Disease Spastic Paraparesis 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. 1.
    Kong Q, Surewicz WK, Petersen RB et al. Inherited prion diseases. In: Prusiner SB, ed. Prion Biology and Diseases. New York: Cold Spring Harbor Laboratory Press, 2004:673–775.Google Scholar
  2. 2.
    Budka H, Aguzzi A, Brown P et al. Neuropathological diagnostic criteria for Creutzfeldt-Jakob disease (CJD) and other human spongiform encephalopathies (prion diseases). Brain Pathol 1995; 4:459–466.CrossRefGoogle Scholar
  3. 3.
    Dimitz L. Bericht der Vereines fur Psychiatrie und Neurologie in Wien (Vereinsjahr 1912/1913), Sitzung vom 11 Juni 1912. Jahrb Psychiatr Neurol 1913; 34:384.Google Scholar
  4. 4.
    Gerstmann J. über ein noch nicht beschriebenes Reflexphanomen beieiner Erkrankung des zerebellaren Systems. Wien Medizin Wochenschr 1928; 78:906–908.Google Scholar
  5. 5.
    Gerstmann J, Sträussler E, Scheinker I. Uber eine eigenartige hereditär-familiäre Erkrankung des Zetralnervensystems. Zugleich ein Beitrag zur Frage des vorzeitigen lokalen Alterns. Z. ges. Neurol Psychiat 1936; 154:736–762.CrossRefGoogle Scholar
  6. 6.
    Scheinker I. Neuropathology in its Clinicopathologic Aspects. Charles C Thomas: Springfield, 1947.Google Scholar
  7. 7.
    Braunmühl von A. Uber eine eigenartige hereditaer-familiaere Erkrankung des Zentralnervensystems. Arch Psychiatr Z Neurol 1954; 191:419–449.CrossRefGoogle Scholar
  8. 8.
    Seitelberger F. Eigenartige familiar-hereditare Krankheit des Zetralnervensystems in einer niederosterreichischen Sippe. Wien Klin Wochen 1962; 74:687–691.Google Scholar
  9. 9.
    Seitelberger F. Neuropathological conditions related to neuroaxonal dystrophy. Acta Neuropathol (Berl) 1971; 7:17–29.Google Scholar
  10. 10.
    Gajdusek DC, Gibbs CJ, Alpers MP. Experimental transmission of a kuru-like syndrome to chimpanzees. Nature 1966; 209:794–796.PubMedCrossRefGoogle Scholar
  11. 11.
    Masters CL, Gajdusek DC, Gibbs CJ Jr. Creutzfeldt-Jakob disease virus isolations from the Gerstmann-Sträussler syndrome. With an analysis of the various forms of amyloid plaque deposition in the virus induced spongiform encephalopathies. Brain 1981; 104:559–588.PubMedCrossRefGoogle Scholar
  12. 12.
    Hainfellner J, Brantner-Inhaler S, Cervenakova L et al. The original Gerstmann-Sträussler-Scheinker family of Austria: divergent clinicopathological phenotypes but constant PrP genotype. Brain Pathol 1995; 5:201–213.PubMedCrossRefGoogle Scholar
  13. 13.
    Liberski PP, Budka H. Ultrastructural pathology of Gerstmann-Sträussler-Scheinker disease. Ultrastr Pathol 1995; 19:23–36.CrossRefGoogle Scholar
  14. 14.
    Tateishi J, Kitamoto T, Hashiguchi H et al. Gerstmann-Sträussler-Scheinker disease: immunohistological and experimental studies. Ann Neurol 1988; 24:35–40.PubMedCrossRefGoogle Scholar
  15. 15.
    Rosenthal NP, Keesy J, Crandall B et al. Familal neurological disease associated with spongiform encephalopathy. Arch Neurol 1976; 33:252–259.PubMedCrossRefGoogle Scholar
  16. 16.
    Baker HF, Duchen LW, Jacobs JM et al. Spongiform encephalopathy transmitted experimentally from Creutzfeldt-Jakob and familial Gerstmann-Sträussler-Scheinker diseases. Brain 1990; 113:1891–1909.PubMedCrossRefGoogle Scholar
  17. 17.
    Brown P, Gibbs C Jr, Rodgers Johnson P et al. Human spongiform encephalopathy: The National Institutes of Health series of 300 cases of experimentally transmitted disease. Ann Neurol 1994; 35:513–529.PubMedCrossRefGoogle Scholar
  18. 19.
    Worster-Drought C, Greenfield JG, McMenemey WH. A form of familial presenile dementia with spastic paralysis (including the pathological examination of a case). Brain 1940; 63:237–254.CrossRefGoogle Scholar
  19. 20.
    Worster-Drought C, Greenfield JG, McMenemey WH. A form of familial presenile dementia with spastic paralysis. Brain 1944; 67:38–43.CrossRefGoogle Scholar
  20. 21.
    Worster-Drought C, Hill TR, McMenemey WH. Familial presenile dementia with spastic paralysis. J Neurol Psychopathol 1933; 14:27–34.PubMedCrossRefGoogle Scholar
  21. 22.
    Masters CL, Beyreuther K. The Worster-Drought syndrome and other syndromes of dementia with spastic paraparesis: the paradox of molecular pathology. J Neuropathol Exp Neurol 2001; 60:317–319.PubMedGoogle Scholar
  22. 23.
    Hsiao K, Baker HF, Crow TJ et al. Linkage of a prion protein missense variant to Gerstmann-Sträussler syndrome. Nature 1989; 338:342–345.PubMedCrossRefGoogle Scholar
  23. 24.
    Kuzuhara S, Kanazawa I, Sasaki H et al. Gerstmann-Sträussler-Scheinker disease. Ann Neurol 1983; 14:216–225.PubMedCrossRefGoogle Scholar
  24. 25.
    Yamada M, Tomimotsu H, Yokota T et al. Involvement of the spinal posterior horn in Gerstmann-Sträussler-Scheinker disease (PrP P102L). Neurology 1999; 52:260–265.PubMedGoogle Scholar
  25. 26.
    Brown P, Goldfarb LG, Brown WT et al. Clinical and molecular genetic study of a large German kindred with Gerstmann-Sträussler-Scheinker syndrome. Neurology 1991; 41:375–379.PubMedGoogle Scholar
  26. 27.
    Goldgaber D, Goldfarb L, Brown P et al. Mutations in familial Creutzfeldt-Jakob disease and Gerstmann-Sträussler-Scheinker syndrome. Exp Neurol 1989; 106:204–206.PubMedCrossRefGoogle Scholar
  27. 28.
    Boellaard JW, Schlote W. Subakute spongiforme Encephalopathie mit multiformer Plaquebildung. “Eigenartige familiar-hereditare Kranknheit des Zentralnervensystems [spino-cerebellare Atrophie mit Demenz, Plaques and plaqueähnlichen im Klein-and Grosshirn” (Gerstmann, Sträussler, Scheinker)]. Acta Neuropathol (Berl) 1980; 49:205–212.CrossRefGoogle Scholar
  28. 29.
    Doerr-Schott J, Kitamoto T, Tateishi J et al. Technical communication. Immunogold light and electron microscopic detection of amyloid plaques in transmissible spongiform encephalopathies. Neuropathol Appl Neurobiol 1990; 16:85–89.PubMedCrossRefGoogle Scholar
  29. 30.
    Schlote W, Boellaard JW, Schumm F et al. Gerstmann-Sträussler-Scheinker’s disease. Electron-microscopic observations on a brain biopsy. Acta Neuropathol (Berl) 1980; 52:203–211.CrossRefGoogle Scholar
  30. 31.
    Schumm F, Boellaard JW, Schlote W et al. Morbus Gerstmann-Sträussler-Scheinker. Familie SCh.—Ein Bericht uber drei Kranke. Arch Psychiatr Nervenkr 1981; 230:179–196.PubMedCrossRefGoogle Scholar
  31. 32.
    Goldhammer Y, Gabizon R, Meiner Z et al. An Israeli family with Gerstmann-Sträussler-Scheinker disease manifesting the codon 102 mutation in the prion protein gene. Neurology 1993; 43:2718–2719.PubMedGoogle Scholar
  32. 33.
    Majtenyi C, Brown P, Cervenakova L et al. A three-sister sibship of Gerstmann-Sträussler-Scheinker disease with a CJD phenotype. Neurology 2000; 54:2133–2137.PubMedGoogle Scholar
  33. 34.
    Kulczycki J, Collinge J, Lojkowska W et al. Report on the first Polish case of the Gerstmann-Sträussler-Scheinker syndrome. Folia Neuropathol 2001; 39:27–31.PubMedGoogle Scholar
  34. 35.
    Cameron E, Crawford AD. A familial neurological disease complex in a Bedfordshire community. JR Coll Gen Pract 1974; 24:435–436.Google Scholar
  35. 36.
    Collinge J, Harding AE, Owen F et al. Diagnosis of Gerstmann-Sträussler syndrome in familial dementia with prion protein gene analysis. Lancet 1989; 2:15–17.PubMedCrossRefGoogle Scholar
  36. 37.
    Barbanti P, Fabbrini G, Salvatore M et al. Polymorphism at codon 129 or codon 219 of PRNP and clinical heterogeneity in a previously unreported family with Gerstmann-Sträussler-Scheinker disease (PrP-P102L mutation). Neurology 1996; 47:734–741.PubMedGoogle Scholar
  37. 38.
    Bianca M, Bianca S, Vecchio I et al. Gerstmann-Sträussler-Scheinker disease with P102L-V129 mutation: a case with psychiatric manifestations at onset. Ann Genet 2003; 46:467–469.PubMedCrossRefGoogle Scholar
  38. 39.
    De Michele G, Pocchiari M, Petraroli R et al. Variable phenotype in a P102L Gerstmann-Sträussler-Scheinker Italian family. Can J Neurol Sci 2003; 30:233–236.PubMedGoogle Scholar
  39. 40.
    Kretzschmar HA, Honold G, Seitelberger F et al. Prion protein mutation in family first reported by Gerstmann, Sträussler and Scheinker. Lancet 1991; 337:1160.PubMedCrossRefGoogle Scholar
  40. 41.
    Young K, Clark HB, Piccardo P et al. Gerstmann-Sträussler-Scheinker disease with the PRNP P102L mutation and valine at codon 129. Molec Brain Res 1997; 44:147–150.PubMedCrossRefGoogle Scholar
  41. 42.
    Goodbrand IA, Ironside JW, Nicolson D et al. Prion protein accumulations in the spinal cords of patients with sporadic and growth hormone-associated Creutzfeldt-Jakob disease. Neurosci Lett 1995; 183:127–130.PubMedCrossRefGoogle Scholar
  42. 43.
    Piccardo P, Ghetti B, Dickson DW et al. Gerstmann-Sträussler-Scheinker disease (PRNP P102L): Amyloid deposits are best recognized by antibodies directed to epitopes in PrP region 90-165. J Neuropathol Exp Neurol 1995; 54:790–801.PubMedCrossRefGoogle Scholar
  43. 44.
    Amano N, Yagishita S, Yokoi S. Gerstmann-Sträussler-Scheinker syndrome—a variant type: amyloid plaques and Alzheimer’s neurofibrillary tangles in cerebral cortex. Acta Neuropathol 1992; 84:15–23.PubMedCrossRefGoogle Scholar
  44. 45.
    Itoh Y, Yamada M, Hayakawa M et al. A variant of Gerstmann-Sträussler-Scheinker disease carrying codon 105 mutation with codon 129 polymorphism of the prion protein gene: a clinicopathological study. J Neurol Sci 1994; 127:77–86.PubMedCrossRefGoogle Scholar
  45. 46.
    Kitamoto M, Amano N, Terao Y et al. A new inherited prion disease (PrP P105L mutation) showing spastic paraparesis. Ann Neurol 1993; 34:808–813.PubMedCrossRefGoogle Scholar
  46. 47.
    Kitamoto T, Ohta M, Doh-Ura K et al. Novel missense variants of prion protein in Creutzfeldt-Jakob disease or Gerstmann-Sträussler-Scheinker syndrome. Bioch Bioph Res Comm 1993; 191:709–714.CrossRefGoogle Scholar
  47. 48.
    Kubo M, Nishimura T, Shikata E et al. A case of variant Gerstmann-Sträussler-Scheinker disease with the mutation of codon P105L. Rinsho Shinkeigaku 1995; 35:873–877.PubMedGoogle Scholar
  48. 49.
    Nakazato Y, Ohno R, Negishi T et al. An autopy case of Gerstmann-Sträussler-Scheinker’s disease with spastic paraplegia as its principal feature. Clin Neuropathol 1991; 31:987–992.Google Scholar
  49. 50.
    Yamada M, Itoh Y, Fujigasaki H et al. A missense mutation at codon 105 with codon 129 polymorphism of the prion protein gene in a new variant of Gerstmann-Sträussler-Scheinker disease. Neurology 1993; 43:2723–2724.PubMedGoogle Scholar
  50. 51.
    Yamada M, Itoh Y, Inaba A et al. An inherited prion disease with a PrP P105L mutation: clinicopathologic and PrP heterogeneity. Neurology 1999; 53:181–188.PubMedGoogle Scholar
  51. 52.
    Yamazaki M, Oyanagi K, Mori O et al. Variant Gerstmann-Sträussler syndrome with the P105L prion gene mutation: an unusual case with nigral degeneration and widespread neurofibrillary tangles. Acta Neuropathol (Berl) 1999; 98:506–511.CrossRefGoogle Scholar
  52. 53.
    Doh-Ura K, Tateishi J, Sakaki Y et al. Pro → Leu change at position 102 of prion protein is the most common but not the sole mutation related to Gerstmann-Sträussler-Scheinker syndrome. Bioch Biophys Res Comm 1989; 163:974–979.CrossRefGoogle Scholar
  53. 54.
    Heldt N, Boellaard JW, Brown P et al. Gerstmann-Sträussler-Scheinker disease with A117V mutation in a second French-Alsatian family. Clin Neuropathol 1998; 17:229–234.PubMedGoogle Scholar
  54. 55.
    Heldt N, Floquet J, Warter JM et al. Syndrome de Gerstmann-Sträussler-Scheinker: Neuropathologie de trois cas dans une famille alsacienne. In: Court LA, Cathala F, eds. Virus Non Conventionnels et Affections du Systeme Nerveux Central. Paris: Masson, 1983:290–297.Google Scholar
  55. 56.
    Hsiao K, Dlouhy SR, Farlow MR et al. Mutant prion proteins in Gerstmann-Sträussler-Scheinker disease with neurofibrillary tangles. Nat Genet 1992; 1:68–71.PubMedCrossRefGoogle Scholar
  56. 57.
    Mallucci GR, Campbell TA, Dickinson A et al. Inherited prion disease with an alanine to valine mutation at codon 117 in the prion protein gene. Brain 1999; 122:1823–1837.PubMedCrossRefGoogle Scholar
  57. 58.
    Mastrianni JA, Curtis MT, Oberholtzer JC et al. Prion disease (PrP—A117V) presenting with ataxia instead of dementia. Neurology 1996; 45:2042–2050.Google Scholar
  58. 59.
    Mohr M, Tranchant C, Steinmetz G et al. Gerstmann-Sträussler-Scheinker disease and the French-Alsatian A117V variant. Clin Exp Pathol 1999; 47:161–175.PubMedGoogle Scholar
  59. 60.
    Tranchant C, Doh-Ura K, Steinmetz G et al. Mutation of codon 117 of the prion gene in Gerstmann-Sträussler-Scheinker disease. Rev Neurol (Paris) 1991; 147:274–278.Google Scholar
  60. 61.
    Tranchant C, Doh-Ura K, Warter JM et al. Gerstmann-Sträussler-Scheinker disease in an Alsatian family: clinical and genetic studies. J Neurol Neurosurg Psychiatry 1992; 55:185–187.PubMedCrossRefGoogle Scholar
  61. 62.
    Tranchant C, Sergeant N, Wattez A et al. Neurofibrilllary tangles in Gerstmann-Sträussler-Scheinker syndrome with the A117V prion gene mutation. J Neurol Neurosurg Psychiatry 1997; 63:240–246.PubMedCrossRefGoogle Scholar
  62. 63.
    Tagliavini F, Lievens PM-J, Tranchant C et al. A 7-kDa prion protein (PrP) fragment, an integral component of the PrP region required for infectivity, is the major amyloid protein in Gerstmann-Sträussler-Scheinker disease A117V. J Biol Chem 2001; 276:6009–6015.PubMedCrossRefGoogle Scholar
  63. 64.
    Ghetti B, Bugiani O, Tagliavini F et al. Gerstmann-Sträussler-Scheinker disease. In: Dickson D, ed. Neurodegeneration: The Molecular Pathology of Dementia and Movement Disorders. Basel: ISN Neuropath Press, 2003:318–325.Google Scholar
  64. 65.
    Piccardo P, Liepnieks JJ, William A et al. Prion proteins with different conformations accumulate in Gerstmann-Sträussler-Scheinker disease caused by A117V and F198S mutations. Am J Pathol 2001; 158:2201–2207.PubMedCrossRefGoogle Scholar
  65. 66.
    Panegyres PK, Toufexis K, Kakulas BA et al. A new PRNP mutation (G131V) associated with Gerstmann-Sträussler-Scheinker disease. Arch Neurol 2001; 58:1899–1902.PubMedCrossRefGoogle Scholar
  66. 67.
    Kitamoto T, Iizuka R, Tateishi J. An amber mutation of prion protein in Gerstmann-Sträussler syndrome with mutant PrP plaques. Bioch Biophys Res Comm 1993; 192:525–531.CrossRefGoogle Scholar
  67. 68.
    Butefisch CM, Gambetti P, Cervenakova L et al. Inherited prion encephalopathy associated with the novel PRNP H187R mutation: a clinical study. Neurology 2000; 55:517–522.PubMedGoogle Scholar
  68. 69.
    Dlouhy SR, Hsiao K, Farlow MR et al. Linkeage of the Indiana kindred of Gerstmann-Sträussler-Scheinker disease to the prion protein gene. Nat Genet 1992; 1:64–67.PubMedCrossRefGoogle Scholar
  69. 70.
    Mirra SS, Young K, Gearing M et al. Coexistence of prion protein (PrP) amyloid, neurofibrillary tangles and Lewy bodies in Gerstmann-Sträussler-Scheinker disease with prion gene (PRNP) mutation F198S. Brain Pathol 1997; 7:1378.Google Scholar
  70. 71.
    Farlow MR, Tagliavini F, Bugiani O et al. Gerstmann-Sträussler-Scheinker disease. In: Vinken PJ, Bruyn GW, Klawans HL, eds. Hereditary Neuropathies and Spinocerebellar Atrophies. Amsterdam: Elsevier Science Publishers, 1991:619–633.Google Scholar
  71. 72.
    Farlow MR, Yee RD, Dlouhy SR et al. Gerstmann-Sträussler-Scheinker disease. I. Extending the clinical spectrum. Neurology 1989; 39:1446–1452.PubMedGoogle Scholar
  72. 73.
    Yee RD, Farlow MR, Suzuki DA et al. Abnormal eye movements in Gerstmann-Sträussler-Scheinker disease. Arch Ophthalmol 1992; 110:68–74.PubMedCrossRefGoogle Scholar
  73. 74.
    Ghetti B, Dlouhy SR, Giaccone G et al. Gerstmann-Sträussler-Scheinker diseases and the Indiana kindred. Brain Pathol 1995; 5:61–95.PubMedCrossRefGoogle Scholar
  74. 75.
    Ghetti B, Piccardo P, Lievens PMJ et al. Phenotypic and prion protein (PrP) heterogeneity in Gerstmann-Sträussler-Scheinker disease (GSS) with a proline to a leucine mutation at PRNP residue 102. In: The 6th International Conference on Alzheimer’s Disease and Related Disorders, Amsterdam. Neurobiol Aging 1998; 19:298.Google Scholar
  75. 76.
    Ghetti B, Tagliavini F, Giaccone G et al. Familial Gerstmann-Sträussler-Scheinker disease with neurofibrillary tangles. Mol Neurobiol 1994; 8:41–48.PubMedCrossRefGoogle Scholar
  76. 77.
    Ghetti B, Tagliavini F, Masters CL et al. Gerstmann-Sträussler-Scheinker disease. II Neurofibrillary tangles and plaques with PrP-amyloid coexist in an affected family. Neurology 1989; 39:1453–1461.PubMedGoogle Scholar
  77. 78.
    Nochlin D, Sumi SM, Bird TD et al. Familial dementia with PrP positive amyloid palques: a variant of Gerstmann-Sträussler syndrome. Neurology 1989; 39:910–918.PubMedGoogle Scholar
  78. 79.
    Pearlman RL, Towfighi J, Pezeshkpour GH et al. Clinical significance of types of cerebellar amyloid plaques in human spongiform encephalopathies. Neurology 1988; 38:1249–1254.PubMedGoogle Scholar
  79. 80.
    Young K, Piccardo P, Kish SJ et al. Gerstmann-Sträussler-Scheinker disease (GSS) with a mutation at prion protein (PrP) residue 212. W: The 74th Annual Meeting of the American Association of Neuropathologists Inc, Minneapolis, Minnesota. J Neuropathol Exp Neurol 1998; 57:518.CrossRefGoogle Scholar
  80. 81.
    Bugiani O, Giaccone G, Verga L et al βPP participates in PrP-amyloid plaques of Gerstmann-Sträussler-Scheinker disease, Indiana kindred. J Neuropathol Exp Neurol 1993; 52:64–70.PubMedCrossRefGoogle Scholar
  81. 82.
    Piccardo P, Dlouhy SR, Lievens PMJ et al. Phenotypic variability of Gerstmann-Sträussler-Scheinker disease is associated with prion protein heterogeneity. J Neuropathol Exp Neurol 1998; 57:979–988.PubMedCrossRefGoogle Scholar
  82. 83.
    Tagliavini F, Prelli F, Porro M et al. Amyloid fibrils in Gerstmann-Sträussler-Scheinker disease (Indiana and Swedish kindreds) express only PrP peptides encoded by the mutant allele. Cell 1994; 79:695–703.PubMedCrossRefGoogle Scholar
  83. 84.
    Giaccone G, Verga L, Bugiani O et al. Prion protein preamyloid and amyloid deposits in Gerstmann-Sträussler-Scheinker disease, Indiana kindred. Proc Natl Acad Sci USA 1992; 89:9349–9353.PubMedCrossRefGoogle Scholar
  84. 85.
    Ikeda S, Yanagisawa N, Glenner GG et al. Gerstmann-Sträussler-Scheinker disease showing β-protein amyloid deposits in the peripheral regions of PrP-immunoreactive amyloid plaques. Neurodegeneration 1992; 1:281–288.Google Scholar
  85. 86.
    Bratosiewicz-Wasik J, Wasik T, Liberski PP. Molecular approaches to mechanisms of prion diseases. Folia Neuropathol 2004; 42:33–46.PubMedGoogle Scholar
  86. 87.
    Liberski PP, Bratosiewicz J, Barcikowska M et al. A case of sporadic Creutzfeldt-Jakob disease with Gerstmann-Sträussler-Scheinker phenotype but no alterations in the PRNP gene. Acta Neuropathol (Berl) 2000; 100:233–234.CrossRefGoogle Scholar
  87. 88.
    Hudson AJ, Farrell MA, Kalnins R et al. Gerstmann-Sträussler-Scheinker disease with coincidental familial onset. Ann Neurol 1983; 14:670–678.PubMedCrossRefGoogle Scholar
  88. 89.
    Peiffer J. Gerstmann-Sträussle’s disease, atypical multiple sclerosis and carcinomas in family of sheepbreeders. Acta Neuropathol (Berl) 1982; 56:87–92.CrossRefGoogle Scholar
  89. 90.
    Ceballos AC, Baringo FT, Pelegrin VC. Gerstmann-Sträussler syndrome clinical and neuromorphofunctional disgnosis: a case report. Actas Luso Esp Neurol Psiquiatr Cienc Afines 1996; 24:156–160.Google Scholar
  90. 91.
    Galatioto S, Ruggeri D, Gullotta F. Gerstmann-Sträussler-Scheinker syndrome in a Sicilian patient. Neuropathological aspects. Pathologica 1995; 87:659–665.PubMedGoogle Scholar
  91. 92.
    Ikeda S, Yanagisawa N, Allsop D et al. Gerstmann-Sträussler-Scheinker disease showing β-protein type cerebellar and cerebral amyloid angiopathy. Acta Neuropathol 1994; 88:262–266.PubMedCrossRefGoogle Scholar
  92. 93.
    Mighelli A, Attanasio A, Claudia M et al. Dystrophic neurites around amyloid plaques of human patients with Gerstmann-Sträussler-Scheinker disease contain ubiquitinated inclusions. Neurosci Lett 1991; 121:55–58.CrossRefGoogle Scholar
  93. 94.
    Vinters HV, Hudson AJ, Kaufmann JCE. Gerstmann-Sträussler-Scheinker disease: autopsy study of a familial case. Ann Neurol 1986; 20:540–543.PubMedCrossRefGoogle Scholar
  94. 95.
    de Courten-Myers G, Mandybur TI. Atypical Gerstmann-Sträussler syndrome or familial spinocerebellar ataxia and Alzheimer’s disease? Neurology 1987; 37:269–275.PubMedGoogle Scholar
  95. 97.
    Gabizon R, Telling G, Meiner Z et al. Insoluble wild-type and protease-resistant mutant prion protein in brains of patients with inherited prion diseases. Nat Med 1996; 2, 59–64.PubMedCrossRefGoogle Scholar
  96. 98.
    Bolton DC, McKinley MP, Prusiner SB. Identification of a protein that purifies with the scrapie prion. Science 1982; 218:1309–1311.PubMedCrossRefGoogle Scholar
  97. 99.
    McKinley MP, Bolton DC, Prusiner SB. A protease resistant protein is a structural component of the scrapie prion. Cell 1983; 35:57–62.PubMedCrossRefGoogle Scholar
  98. 100.
    Parchi P, Chen SG, Brown P et al. Different patterns of truncated prion protein fragments correlate with distinct phenotypes in P102L Gerstmann-Sträussler-Scheinker disease. Proc Natl Acad Sci USA 1998; 95:8322–8327.PubMedCrossRefGoogle Scholar

Copyright information

© Landes Bioscience and Springer Science+Business Media 2012

Authors and Affiliations

  • Paweł P. Liberski
    • 1
  1. 1.Department of Molecular Pathology and NeuropathologyMedical University LodzLodzPoland

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