Gerstmann-Sträussler-Scheinker syndrome, fatal familial insomnia, and kuru: A review of these less common human transmissible spongiform encephalopathies

Journal of Clinical Neuroscience

Volumn 8, Issue 5, 2001, Pages 387-397

  Collins, S ^a   McLean, C A ^a   Masters, C L ^a  

^a UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

Fatal familial insomnia; Gerstmann Str ussler Scheinker disease; Kuru; Prion diseases; Review; Transmissible spongiform encephalopathies

Indexed keywords

AMYLOID; PRION PROTEIN;

ALZHEIMER DISEASE; CEREBELLAR ATAXIA; CHROMOSOME 20; CLINICAL FEATURE; CREUTZFELDT JAKOB DISEASE; DEGENERATIVE DISEASE; FATAL FAMILIAL INSOMNIA; GENE MUTATION; GERSTMANN STRAUSSLER SCHEINKER SYNDROME; HISTOPATHOLOGY; HUMAN; KURU; NEUROFIBRILLARY TANGLE; NEUROPATHOLOGY; OPEN READING FRAME; PATHOGENESIS; PHENOTYPE; PRION DISEASE; PRIORITY JOURNAL; REVIEW;

EID: 0034856144     PISSN: 09675868     EISSN: None     Source Type: Journal    
DOI: 10.1054/jocn.2001.0919     Document Type: Review

References (101)

1. Prion diseases and the BSE crisis
2. Inherited prion disease with 144 base pair gene insertion. 2. Clinical and pathological features
3. Familial spongiform encephalopathy associated with a novel prion protein gene mutation
4. Uber ein noch nicht beschriebenes reflexphanomen bei einer erkrankung des zerebellaren systems
5. Uber eine eigenartige hereditar-familiare erkrankung des zentralnervensystems. Zugleich ein beitrag zur frage des vorzeitigen lokalen alterns
6. Creutzfeldt-Jakob disease virus isolations from the Gerstmann-Sträussler syndrome with an analysis of the forms of amyloid plaque deposition in the virus-induced spongiform change
7. An amber mutation of prion protein in Gerstmann-Sträussler Syndrome with mutant PrP plaques
8. Linkage of a prion protein missence variant to Gerstmann-Sträussler Syndrome
9. Human spongiform encephalopathy: The National Institutes of Health series of 300 cases of experimentally transmitted disease
10. Experimental transmission of Creutzfeldt-Jakob disease and related diseases to rodents
11. Different patterns of truncated prion protein fragments correlate with distinct phenotypes in P102L Gerstmann-Sträussler-Scheinker disease
12. Spontaneous neurodegeneration in transgenic mice with mutant prion protein
13. A synthetic peptide initiates Gerstmann-Sträussler-Scheinker disease in transgenic mice
14. Pro→Leu change at position 102 of prion protein is the most common but not the sole mutation related to Gerstmann-Sträussler Syndrome
15. Mutations in familial Creutzfeldt-Jakob disease and Gerstmann-Sträussler-Scheinker's disease
16. A missense mutation at codon 105 with codon 129 polymorphism of the prion protein gene in a new variant of Gerstmann-Sträussler-Scheinker disease
17. A case of sporadic Creutzfeldt-Jakob disease with a Gerstmann-Sträussler-Scheinker phenotype but no alterations in the PRNP gene
18. Mutant prion proteins in Gerstmann-Sträussler-Scheinker disease with neurofibrillary tangles
19. Novel missence variants of prion protein in Creutzfeldt-Jakob disease or Gerstmann-Sträussler Syndrome
20. A new inherited prion disease (PrP-P105L mutation) showing spastic paraparesis
21. An insert mutation in the chromosome 20 amyloid precursor gene in a Gerstmann-Sträussler-Scheinker family
22. The original Gerstmann-Sträussler-Scheinker family of Austria: Divergent clinicopathological phenotypes but constant PrP genotype
23. Discordant Gerstmann-Sträussler-Scheinker disease in monozygotic twins
24. Gerstmann-Sträussler-Scheinker disease and the Indiana kindred
25. Gerstmann-Sträussler-Scheinker disease with the PRNP P102L mutation and valine at codon 129
26. Prion protein mutation in family first reported by Gerstmann, Sträussler and Scheinker
27. New variant prion protein in a Japanese family with Gerstmann-Sträussler syndrome
28. The phenotypic expression of different mutations in transmissible human spongiform encephalopathy
29. Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene
30. Hypokinesia and presenile dementia in a Dutch family with a novel insertion in the prion protein gene
31. An insert mutation in the PrP gene in a French Gerstmann-Sträussler-Scheinker family with psychiatric features
32. Clinical and molecular genetic study of a large German kindred with Gerstmann-Sträussler-Scheinker Syndrome
33. Phenotypic variablility of Gerstmann-Sträussler-Scheinker disease is associated with prion protein heterogeneity
34. A variant of Gerstmann-Sträussler-Scheinker disease carrying codon 105 mutation with codon 129 polymorphism of the prion protein gene: A clinicopathological study
35. Familial dementia with PrP-positive amyloid plaques: A variant of Gerstmann-Sträussler syndrome
36. Familial Gerstmann-Sträussler-Scheinker disease with neurofibrillary tangles
37. Variant Gerstmann-Sträussler-Scheinker syndrome with the P102L prion protein mutation: An unusual case with nigral degeneration and widespread neurofibrillary tangles
38. A prion protein variant in a family with the telencephalic form of Gerstmann-Sträussler-Scheinker syndrome
39. Gerstmann-Sträussler-Scheinker disease with A117V mutation in a second French-Alsatian family
40. Gerstmann-Sträussler-Scheinker disease showing Aβ-protein amyloid deposits in the peripheral regions of PrP-immunoreactive amyloid plaques
41. Amyloid plaques in Creutzfeldt-Jakob disease stain with prion protein antibodies
42. A prion protein missense variant is integrated in kuru plaque cores in patients with Gerstmann-Sträussler syndrome
43. Gerstmann-Sträussler syndrome - A variant type: Amyloid plaques and Alzheimer's neurofibrillary tangles in cerebral cortex
44. Fatal familial insomnia and dysautonomia with selective degeneration of thalamic nuclei
45. Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein gene
46. First experimental transmission of fatal familital insomnia
47. The D178N (cis-129M) 'fatal familial insomnia' mutation associated with diverse clinicopathologic phenotypes in an Australian kindred
48. Fatal familial insomnia: A second kindred with mutation of prion protein gene at codon 178
49. Clinical and genetic studies of fatal familial insomnia
50. Fatal familial insomnia: A seventh family
51. Fatal familial insomnia: A new Austrian family
52. Fatal familial insomnia: Clinical, neuropathological, and genetic description of a Spanish family
53. Phenotypic variability in fatal familial insomnia (D178N-129M) genotype
54. Prion protein conformation in a patient with sporadic fatal insomnia
55. A subtype of sporadic prion disease mimicking fatal familial insomnia
56. lys mutation
57. Analysis of the prion protein gene in thalamic dementia
58. New mutation in scrapie amyloid precursor gene (at codon 178) in Finnish Creutzfeldt-Jakob kindred
59. Codon 178 mutation in ethnically diverse Creutzfeldt-Jakob disease families
60. Fatal familial insomnia and familial Creutzfeldt-Jakob disease: Disease phenotype determined by a DNA polymorphism
61. Effect of the D178N mutation and the codon 129 polymorphism on the metabolism of the prion protein
62. Fatal familial insomnia and familial Creutzfeldt-Jakob disease: Different prion proteins determined by DNA polymorphism
63. Fatal familial insomnia and familial Creutzfeldt-Jakob disease: Clinical, pathological and molecular features
64. Molecular pathology of fatal familial insomnia
65. A PrP gene codon 178 base substitution and a 24-bp interstitial deletion in familial Creutzfeldt-Jakob disease
66. Clinical heterogeneity and unusual presentations of Creutzfeldt-Jakob disease in Jewish patients with the PRNP codon 200 mutation
67. Fatal familial insomnia: Clinical and pathologic study of five new cases
68. Familial Creutzfeldt-Jakob disease with D178N-129M mutation of PRNP presenting as cerebellar ataxia without insomnia
69. Fatal familial insomnia: Clinical and pathologic heterogeneity in genetic half brothers
70. The pathophysiology of fatal familial insomnia
71. Dysautonomia in fatal familial insomnia as an indicator of the potential role of the thalamus in autonomic control
72. Creutzfeldt-Jakob disease: Diagnostic utility of 14-3-3 protein immunodetection in cerebrospinal fluid
73. Analysis of EEG and CSF 14-3-3 proteins as aids to the diagnosis of Creutzfeldt-Jakob disease
74. 18F]FDG PET in fatal familial insomnia: The functional effects of thalamic lesions
75. Regional distribution of protease-resistant prion protein in fatal familial insomnia
76. Neuronal apoptosis in fatal familial insomnia
77. Loss of functional prion protein: A role in prion disorders?
78. Selective neuronal vulnerability in human prion diseases: Fatal familial insomnia differs from the other types of prion disease
79. Degenerative disease of the central nervous system in New Guinea: The endemic occurrence of 'kuru' in the native population
80. Kuru: Clinical study of a new syndrome resembling paralysis agitans in natives of the Eastern Highlands of Australian New Guinea
81. Studies on kuru. IV. The kuru pattern in Moke a representative Fore village
82. Kuru: An appraisal of five years of investigation
83. Kuru - Some misconceptions and their explanation
84. Unconventional viruses and the origin and disappearance of kuru
85. Scrapie and kuru
86. Neuropathology and the scrapie-kuru connection
87. Experimental transmission of a Kuru-like syndrome to chimpanzees
88. Transmission and passage of experimental 'kuru' to chimpanzess
89. Transmission of experimental kuru to the spider monkey (Ateles geoffreyi)
90. Pathology of kuru
91. Phenotype-genotype studies in kuru: Implications for new variant Creutzfeldt-Jakob disease
92. Pathology and immunocytochemistry of a kuru brain
93. Comparative neuropathology of kuru with the new variant of Creutzfeldt-Jacob disease: Evidence for strain of agent predominating over genotype of host
94. Effect of kuru on pregnancy
95. Kuru: Forty years later, a historical note
96. Slow-virus infections of the nervous system
97. The natural incubation period of kuru and the episodes of transmission in three clusters of patients
98. Kuru with incubation periods exceeding two decades
99. Further observations on the pathology of kuru. (A study of the two cerebra in serial section.)
100. Neuropathologic findings in exotic neurologic disorders among natives of the highlands of New Guinea
101. Observations on kuru. III: Pathological features in five cases