Gerstmann-Sträussler-Scheinker disease

Advances in Experimental Medicine and Biology

Volumn 724, Issue , 2012, Pages 128-137

  Liberski, Paweł P ^a  

^a MEDICAL UNIVERSITY OF LODZ   (Poland)

Author keywords

[No Author keywords available]

Indexed keywords

PRION PROTEIN; PRNP PROTEIN, HUMAN;

AMINO ACID SUBSTITUTION; ARTICLE; CODON; GENE; GENE MUTATION; GERSTMANN STRAUSSLER SCHEINKER SYNDROME; HUMAN; NEUROPATHOLOGY; PRION PROTEIN GENE; PRIORITY JOURNAL; AMYLOID PLAQUE; GENETICS; MUTATION; PATHOLOGY; PRION; REVIEW; ULTRASTRUCTURE;

GERSTMANN-STRAUSSLER-SCHEINKER DISEASE; HUMANS; MUTATION; PLAQUE, AMYLOID; PRIONS;

EID: 84859488323     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-4614-0653-2_10     Document Type: Article

References (100)

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.
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.
3. Dimitz L. Bericht der Vereines fur Psychiatrie und Neurologie in Wien(Vereinsjahr 1912/1913), Sitzung vom 11 Juni 1912. Jahrb PsychiatrNeurol 1913; 34:384.
4. Gerstmann J. iiber ein noch nicht beschriebenes Reflexphanomenbeieiner Erkrankung des zerebellaren Systems. Wien Medizin Wochenschr 1928; 78:906-908.
5. Gerstmann J, Straussler E, Scheinker I. Uber eine eigenartige hereditar-familiare Erkrankung des Zetralnervensystems. Zugleich ein Beitrag zur Frage des vorzeitigen lokalen Alterns. Z. ges. Neurol Psychiat 1936; 154:736-762.
6. Scheinker I. Neuropathology in its Clinicopathologic Aspects. Charles C Thomas:Springfield, 1947.
7. Braunmiihl von A. Uber eine eigenartige hereditaer-familiaere Erkrankung des Zentralnervensystems. Arch Psychiatr Z Neurol 1954; 191:419-449.
8. SeitelbergerF. Eigenartige familiar-hereditareKrankheit des Zetralnervensystems in einerniederosterreichischen Sippe. Wien Klin Wochen 1962; 74:687-691.
9. Seitelberger F. Neuropathological conditions related to neuroaxonal dystrophy. Acta Neuropathol (Berl) 1971; 7:17-29.
10. Gajdusek DC, Gibbs CJ, Alpers MP. Experimental transmission of a kuru-like syndrome to chimpanzees. Nature 1966; 209:794-796.
11. Masters CL, Gajdusek DC, Gibbs CJ Jr. Creutzfeldt-Jakob disease virus isolations from the Gerstmann-Straussler syndrome. With an analysis ofthe various forms of amyloid plaque deposition in the virus induced spongiform encephalopathies. Brain 1981; 104:559-588.
12. Hainfellner J, Brantner-Inhaler S, Cervenakova L et al. The original Gerstmann-Straussler-Scheinker family of Austria: divergent clinicopathological phenotypes but constant PrP genotype. Brain Pathol 1995; 5:201-213.
13. Liberski PP, Budka H. Ultrastructural pathology of Gerstmann-Straussler- Scheinker disease. Ultrastr Pathol 1995;19:23-36.
14. Tateishi J, Kitamoto T, Hashiguchi H et al. Gerstmann-Straussler- Scheinker disease: immunohistological and experimental studies. Ann Neurol 1988; 24:35-40.
15. RosenthalNP, Keesy J, CrandallBetal.Familalneurologicaldiseaseassociated with spongiform encephalopathy. Arch Neurol 1976; 33:252-259.
16. Baker HF, Duchen LW, Jacobs JM et al. Spongiform encephalopathy transmitted experimentally from Creutzfeldt-Jakob and familial Gerstmann-Straussler-Scheinker diseases. Brain 1990; 113:1891-1909.
17. Brown P, Gibbs C Jr, Rodgers Johnson P et al. Human spongiform encephalopathy: The National Institutes of Health series of300 cases of experimentally transmitted disease. AnnNeurol 1994; 35:513-529.
18. Brown-personal communication, 2005.
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.
20. Worster-Drought C, Greenfield JG, McMenemey WH. A form of familial presenile dementia with spastic paralysis. Brain 1944; 67:38-43.
21. Worster-Drought C, Hill TR, McMenemey WH. Familial presenile dementia with spastic paralysis. J Neurol Psychopathol 1933; 14:27-34.
22. Masters CL, Beyreuther K. The Worster-Drought syndrome and other syndromes of dementia with spastic paraparesis: the paradox of molecularpathology. JNeuropathol Exp Neurol 2001; 60:317-319.
23. Hsiao K, Baker HF, Crow TJ et al. Linkage of a prion protein missense variant to Gerstmann-Straussler syndrome. Nature 1989; 338:342-345.
24. KuzuharaS,Kanazawa I, Sasaki Hetal. Gerstmann-Straussler-Scheinker disease. AnnNeurol 1983; 14:216-225.
25. YamadaM,TomimotsuH,YokotaTetal. InvolvementofthespinalposteriorhorninGerstmann-Straussler-Scheinker disease (PrP P102L). Neurology 1999; 52:260-265.
26. Brown P, Goldfarb LG, Brown WT et al. Clinical and molecular genetic study of a large German kindred with Gerstmann-Straussler-Scheinker syndrome. Neurology 1991; 41:375-379.
27. Goldgaber D, Goldfarb L, Brown P et al. Mutations in familial Creutzfeldt-Jakob disease and Gerstmann-Straussler-Scheinker syndrome. ExpNeurol 1989; 106:204-206.
28. Boellaard JW, Schlote W. Subakute spongiforme EncephalopathiemitmultiformerPlaquebildung. "Eigenartige familiar-hereditare Kranknheit des Zentralnervensystems [spino-cerebellare Atrophie mit Demenz, Plaques and plaqueahnlichen im Klein- and Grosshirn" (Gerstmann, Straussler, Scheinker)]. Acta Neuropathol (Berl) 1980; 49:205-212.
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.
30. Schlote W, Boellaard JW, Schumm F et al. Gerstmann-Straussler-Scheinker's disease. Electron-microscopic observationsonabrainbiopsy.ActaNeuropathol(Berl) 1980; 52:203-211.
31. Schumm F, Boellaard JW, Schlote W et al. Morbus Gerstmann-Straussler- Scheinker. Familie SCh.-Ein Bericht uber drei Kranke. Arch PsychiatrNervenkr 1981; 230:179-196.
32. Goldhammer Y, Gabizon R, Meiner Z et al. An Israeli family with Gerstmann-Straussler-Scheinker disease manifesting the codon 102 mutation inthe prionprotein gene. Neurology 1993; 43:2718-2719.
33. Majtenyi C, Brown P, Cervenakova L et al. A three-sister sibship of Gerstmann-Straussler-Scheinker disease with a CJD phenotype. Neurology 2000; 54:2133-2137.
34. Kulczycki J, Collinge J, Lojkowska W et al. Report on the first Polish case ofthe Gerstmann-Straussler-Scheinker syndrome. Folia Neuropathol 2001; 39:27-31.
35. Cameron E, Crawford AD. A familial neurological disease complex in a Bedfordshire community. JR Coll Gen Pract 1974; 24:435-436.
36. Collinge J, Harding AE, Owen F et al. Diagnosis of Gerstmann-Straussler syndrome in familial dementia with prion protein gene analysis. Lancet 1989; 2:15-17.
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-Straussler-Scheinker disease (PrP-P102L mutation). Neurology 1996; 47:734-741.
38. Bianca M, Bianca S, Vecchio I et al. Gerstmann-Straussler-Scheinker disease with P102L-V129 mutation: a case with psychiatric manifestations at onset. Ann Genet 2003; 46:467-469.
39. De Michele G, Pocchiari M, Petraroli R et al. Variable phenotype inaP102L Gerstmann-Straussler-Scheinker Italian family. Can J Neurol Sci 2003; 30:233-236.
40. Kretzschmar HA, Honold G, Seitelberger F et al. Prion protein mutation in family first reported by Gerstmann, Straussler and Scheinker. Lancet 1991; 337:1160.
41. Young K, Clark HB, Piccardo P et al. Gerstmann-Straussler-Scheinker disease with the PRNP P102L mutation and valine at codon 129. Molec Brain Res 1997; 44:147-150.
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.
43. Piccardo P, Ghetti B, Dickson DW et al. Gerstmann-Straussler-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.
44. Amano N, Yagishita S, Yokoi S. Gerstmann-Straussler-Scheinker syndrome-a variant type: amyloid plaques and Alzheimer's neurofibrillary tangles in cerebral cortex. Acta Neuropathol 1992; 84:15-23.
45. Itoh Y, Yamada M, Hayakawa M et al. A variant of Gerstmann-Straussler- 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.
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.
47. Kitamoto T, Ohta M, Doh-Ura K et al. Novel missense variants of prion protein in Creutzfeldt-Jakob disease or Gerstmann-Straussler-Scheinker syndrome. Bioch Bioph Res Comm 1993; 191:709-714.
48. Kubo M, Nishimura T, Shikata E et al. A case of variant Gerstmann-Straussler-Scheinker disease with the mutation ofcodon P105L. Rinsho Shinkeigaku 1995; 35:873-877.
49. Nakazato Y, Ohno R, Negishi T et al. An autopy case of Gerstmann-Straussler-Scheinker's disease with spastic paraplegia as its principal feature. ClinNeuropathol 1991; 31:987-992.
50. Yamada M, Itoh Y, Fujigasaki H et al. A missense mutation at codon 105 with codon 129 polymorphism of the prionproteingeneinanewvariantofGerstmann- Straussler-Scheinker disease. Neurology 1993;43:2723-2724.
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.
52. Yamazaki M, Oyanagi K, Mori O et al. Variant Gerstmann-Straussler syndrome with the P105L prion gene mutation: an unusual case with nigral degeneration and widespread neurofibrillary tangles. Acta Neuropathol (Berl) 1999; 98:506-511.
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-Straussler-Scheinker syndrome. Bioch Biophys Res Comm 1989; 163:974-979.
54. Heldt N, Boellaard JW, Brown P et al. Gerstmann-Straussler-Scheinker disease with A117V mutation in a secondFrench-Alsatianfamily. ClinNeuropathol 1998; 17:229-234.
55. Heldt N, Floquet J, Waiter JM et al. Syndrome de Gerstmann-Straussler- 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.
56. Hsiao K, Dlouhy SR, Farlow MR et al. Mutant prion proteins in Gerstmann-Straussler-Scheinker disease with neurofibrillarytangles. NatGenet 1992; 1:68-71.
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.
58. Mastrianni JA, Curtis MT, Oberholtzer JC et al. Prion disease (PrP-A117V) presenting with ataxia instead ofdementia. Neurology 1996; 45:2042-2050.
59. MohrM,TranchantC,SteinmetzGetal. Gerstmann-Straussler-Scheinker disease and the French-AlsatianA117V variant. Clin Exp Pathol 1999; 47:161-175.
60. Tranchant C, Doh-Ura K, Steinmetz G et al. Mutation of codon 117 of the prion gene in Gerstmann-Straussler-Scheinker disease. Rev Neurol (Paris) 1991; 147:274-278.
61. Tranchant C, Doh-Ura K, Warter JM et al. Gerstmann-Straussler-Scheinker disease in an Alsatian family: clinical and genetic studies. J Neurol Neurosurg Psychiatry 1992; 55:185-187.
62. Tranchant C, Sergeant N, Wattez A et al. Neurofibrilllary tangles in Gerstmann-Straussler-Scheinker syndrome with the A117V prion gene mutation. J Neurol Neurosurg Psychiatry 1997; 63:240-246.
63. Tagliavini F, Lievens PM-J, Tranchant C et al. A 7-kDa prion protein (PrP) fragment, an integral component of the PrPregionrequiredforinfectivity, isthe major amyloidprotein in (Gerstmann-Straussler-Scheinker disease A117V. J Biol Chem 2001; 276:6009-6015.
64. Ghetti B, Bugiani O, Tagliavini F et al. Gerstmann-Straussler-Scheinker disease. In: Dickson D, ed. Neurodegeneration: The Molecular Pathology ofDementia and Movement Disorders. Basel: ISN Neuropath Press, 2003:318-325.
65. Piccardo P, Liepnieks JJ, William A et al. Prion proteins with different conformations accumulate in Gerstmann-Straussler-Scheinker disease caused by A117V and F198S mutations. Am J Pathol 2001; 158:2201-2207.
66. Panegyres PK, Toufexis K, Kakulas BA et al. A new PRNP mutation (G131V) associated with Gerstmann-Straussler-Scheinker disease. Arch Neurol 2001; 58:1899-1902.
67. Kitamoto T, Iizuka R, Tateishi J. An amber mutation of prion protein in Gerstmann-Straussler syndrome with mutant PrP plaques. Bioch Biophys Res Comm 1993; 192:525-531.
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.
69. Dlouhy SR, Hsiao K, Farlow MR et al. Linkeage of the Indiana kindred of Gerstmann-Straussler-Scheinker disease to the prion protein gene. Nat Genet 1992; 1:64-67.
70. Mirra SS, Young K, Gearing M et al. Coexistence of prion protein (PrP) amyloid, neurofibrillary tangles and Lewy bodies in Gerstmann-Straussler- Scheinker disease with prion gene (PRNP) mutation F198S. Brain Pathol 1997; 7:1378.
71. Farlow MR, Tagliavini F, Bugiani O et al. Gerstmann-Straussler-Scheinker disease. In: Vinken PJ, Bruyn GW, Klawans HL, eds. Hereditary Neuropathies and Spinocerebellar Atrophies. Amsterdam: Elsevier Science Publishers, 1991:619-633.
72. Farlow MR, Yee RD, Dlouhy SR et al. Gerstmann-Straussler-Scheinker disease. I. Extending the clinical spectrum. Neurology 1989; 39:1446-1452.
73. Yee RD, Farlow MR, Suzuki DA et al. Abnormal eye movements in Gerstmann-Straussler-Scheinker disease. Arch Ophthalmol 1992; 110:68-74.
74. Ghetti B, Dlouhy SR, Giaccone G et al. Gerstmann-Straussler-Scheinker diseases and the Indiana kindred. Brain Pathol 1995; 5:61-95.
75. Ghetti B, Piccardo P, Lievens PMJ et al. Phenotypic and prion protein (PrP) heterogeneity in Gerstmann-Straussler-Scheinker disease (GSS) with aproline 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.
76. Ghetti B, Tagliavini F, Giaccone G et al. Familial Gerstmann-Straussler- Scheinker disease with neurofibrillary tangles. Mol Neurobiol 1994; 8:41-48.
77. Ghetti B, Tagliavini F, Masters CL et al. Gerstmann-Straussler-Scheinker disease. II Neurofibrillary tangles andplaques with PrP-amyloid coexist in an affected family. Neurology 1989; 39:1453-1461.
78. Nochlin D, Sumi SM, Bird TD et al. Familial dementia with PrP positive amyloid palques: a variant of Gerstmann-Straussler syndrome. Neurology 1989; 39:910-918.
79. Pearlman RL, Towfighi J, Pezeshkpour GH et al. Clinical significance of types of cerebellar amyloid plaques inhuman spongiform encephalopathies. Neurology 1988; 38:1249-1254.
80. Young K, Piccardo P, Kish SJ et al. Gerstmann-Straussler-Scheinker disease (GSS) with a mutation at prion protein (PrP) residue 212. W: The 74th Annual Meeting of the American Association ofNeuropathologists Inc, Minneapolis, Minnesota. J Neuropathol Exp Neurol 1998; 57:518.
81. Bugiani O, Giaccone G, Verga L et al PPP participates in PrP-amyloid plaques ofGerstmann-Straussler-Scheinker disease, Indiana kindred. J Neuropathol Exp Neurol 1993; 52:64-70.
82. Piccardo P, Dlouhy SR, Lievens PMJ et al. Phenotypic variability of Gerstmann-Straussler-Scheinker disease is associated with prion protein heterogeneity. J Neuropathol Exp Neurol 1998; 57:979-988.
83. Tagliavini F, Prelli F, Porro M et al. Amyloid fibrils in Gerstmann-Straussler-Scheinker disease (Indiana and Swedish kindreds) express only PrP peptides encoded by the mutant allele. Cell 1994; 79:695-703.
84. Giaccone G, Verga L, Bugiani O et al. Prion protein preamyloid and amyloid deposits in Gerstmann-Straussler-Scheinker disease, Indiana kindred. Proc Natl Acad Sci USA 1992; 89:9349-9353.
85. Ikeda S, Yanagisawa N, Glenner GG et al. Gerstmann-Sträussler- Scheinker disease showing β-protein amyloid deposits in theperipheralregionsof PrP-immunoreactiveamyloidplaques.Neurodegeneration 1992; 1:281-288.
86. Bratosiewicz-Wasik J, Wasik T, Liberski PP. Molecular approaches to mechanisms of prion diseases. Folia Neuropathol 2004; 42:33-46.
87. Liberski PP, Bratosiewicz J, Barcikowska M et al. A case of sporadic Creutzfeldt-Jakob disease with Gerstmann-Straussler-Scheinker phenotype but no alterations in the PRNP gene. Acta Neuropathol (Berl) 2000; 100:233-234.
88. Hudson AJ, Farrell MA, Kalnins R et al. Gerstmann-Straussler-Scheinker disease with coincidental familial onset. Ann Neurol 1983; 14:670-678.
89. Peiffer J. Gerstmann-Straussle's disease, atypical multiple sclerosis and carcinomas infamily of sheepbreeders. ActaNeuropathol (Berl) 1982; 56:87-92.
90. Ceballos AC, Baringo FT, Pelegrin VC. Gerstmann-Straussler syndrome clinical and neuromorphofunctional disgnosis: a case report. Actas Luso Esp Neurol Psiquiatr Cienc Afines 1996; 24:156-160.
91. Galatioto S, Ruggeri D, Gullotta F. Gerstmann-Straussler-Scheinker syndrome in a Sicilian patient. Neuropathological aspects. Pathologica 1995; 87:659-665.
92. Ikeda S, Yanagisawa N, Allsop D et al. Gerstmann-Straussler-Scheinker disease showing P-protein type cerebellar and cerebral amyloid angiopathy. Acta Neuropathol 1994; 88:262-266.
93. Mighelli A, Attanasio A, Claudia M et al. Dystrophic neurites around amyloid plaques of human patients with Gerstmann-Straussler-Scheinker disease containubiquitinated inclusions. Neurosci Lett 1991; 121:55-58.
94. Vinters HV, Hudson AJ, Kaufmann JCE. Gerstmann-Straussler-Scheinker disease: autopsy study of a familial case. Ann Neurol 1986; 20:540-543.
95. de Courten-Myers G, Mandybur TI. Atypical Gerstmann-Straussler syndrome or familial spinocerebellar ataxia andAlzheimer's disease? Neurology 1987; 37:269-275.
96. de Courten-Myers G,-personal communication, 2005.
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.
98. Bolton DC, McKinley MP, Prusiner SB. Identification of a protein that purifies with the scrapie prion. Science 1982; 218:1309-1311.
99. McKinley MP, Bolton DC, Prusiner SB. A protease resistant protein is a structural component of the scrapie prion. Cell 1983; 35:57-62.
100. Parchi P, Chen SG, Brown P et al. Different patterns of truncated prion protein fragments correlate with distinct phenotypes in P102L Gerstmann-Straussler-Scheinker disease. Proc Natl Acad Sci USA 1998; 95:8322-8327.