Volume 2: Science
Annex: References for Table 2.2 - human mutations

This annex contains the references cited in Table 2.2 on human mutations.

References for Table 2.2

Brown, P., et al. (1992) Familial Creutzfeldt-Jakob Disease in Chile is Associated With the Codon 200 Mutation of the PRNP Amyloid Precursor Gene on Chromosome 20, Journal of Neurological Science, 112, 65-7

Chapman, J., et al. (1994) The Risk of Developing Creutzfeldt-Jakob Disease in Subjects With the PRNP Gene Codon 200 Point Mutation, Neurology, 44, 1683-6

Collinge, J., et al. (1993) Inherited Prion Disease (PrP lysine 200) in Britain: Two Case Reports, British Medical Journal, 306, 301-2

Davies, P.T.G., et al. (1993) Creutzfeldt-Jakob Disease in Individual Occupationally Exposed to BSE, The Lancet, 342, 680

Farlow, M.R., et al. (1989) Gertsmann-Sträussler-Scheinker Disease. I. Extending the Clinical Spectrum, Neurology, 39, 1446-52

Furukawa, H., et al. (1995) New Variant Prion Protein in a Japanese Family with Gerstmann-Sträussler Syndrome, Brain Research and Molecular Brain Research, 30, 385-8

Ghetti, B., et al. (1989) Gertsmann-Sträussler-Scheinker Disease. II. Neurofibrillary Tangles and Plaques with PrP-Amyloid Coexist in an Affected Family, Neurology, 39, 1453-61

Goldfarb, L.G., et al. (1989) Patients with Creutzfeldt-Jakob Disease and Kuru Lack the Mutation in the PRNP Gene Found in Gerstmann-Sträussler Scheinker Syndrome, But they show a Different Double Allele Mutation in the Same Gene, American Journal of Human Genetics (Suppl.), 45, A189

Goldfarb, L.G., et al. (1990) Mutation in Codon 200 of Scrapie Amyloid Protein Gene in Two Clusters of Creutzfeldt-Jakob Disease in Slovakia, The Lancet, 336, 514-15

Goldfarb, L.G., et al. (1990) Mutation in Codon 200 of Scrapie Amyloid Precursor Gene Linked to Creutzfeldt-Jakob Disease in Sephardic Jews of Libyan and Non-Libyan Origin, The Lancet, 336, 637-8

Goldfarb, L.G., et al. (1991) New Mutation in Scrapie Amyloid Precursor Gene (at codon 178) in Finnish Creutzfeldt-Jakob Kindred, The Lancet, 337, 425

Goldfarb, L.G., et al. (1991a) Transmissible Familial Creutzfeldt-Jakob Disease Associated with Five, Seven, and Eight Extra Octapeptide Coding Repeats in the PRNP Gene, Proceedings of the National Academy of Sciences of the USA, 88, 10926-30

Goldfarb, L.G., et al. (1991b) Creutzfeldt-Jakob Disease Associated with the PRNP Codon 200Lys Mutation: An Analysis of 45 Families, European Journal of Epidemiology, 7, 477-86

Goldfarb, L.G., et al. (1993) A New (two-repeat) Octapeptide Coding Inset Mutation in Creutzfeldt-Jakob Disease, Neurology, 43, 2392-4

Guiroy, D.C., et al. (1993) Immunolocalization of Scrapie Amyloid in Non-Congophilic, Non-Birefringent Deposits in Golden Syrian Hamsters with Experimental Transmissible Mink Encephalopathy, Neuroscience Letters, 155, 112-15

Hsiao, K.K., et al. (1989) Linkage of a Prion Protein Missense Variant to Gerstmann-Sträussler Syndrome, Nature, 338, 342-5

Hsiao, K.K., et al. (1991) Mutation of the Prion Protein in Libyan Jews with Creutzfeldt-Jakob Disease, New England Journal of Medicine, 324, 1091-7

Hsiao, K.K., et al. (1991b) A Prion Protein Variant in a Family With the Telencephalic Form of Gerstmann-Sträussler-Scheinker Syndrome, Neurology, 41, 681-4

Hsiao, K.K., et al. (1992) Mutant Prion Proteins in Gerstmann-Sträussler-Scheinker Disease with Neurofibrillary Tangles, Nature Genetics, 1, 68-71

Kitamoto, T., et al. (1993) An Amber Mutation of Prion Protein in Gerstmann-Sträussler Syndrome with Mutant PrP Plaques, Biochemical and Biophysical Research Communications, 30, 525-31

Kitamoto, T., et al. (1993a) Novel Missense Variants of Prion Protein in Creutzfeldt-Jakob Disease or Gerstmann-Sträussler Syndrome, Biochemical and Biophysical Research Communications, 191, 709-14

Korczyn, A.D., et al. (1991) A Mutation in the Prion Protein Gene in Creutzfeldt-Jakob Disease in Jewish Patients of Libyan, Greek and Tunisian Origin, Annals of the New York Academy of Science, 640, 171-6

Krasemann, S., et al. (1995) Prion Disease Associated with a Novel Nine Octapeptide Repeat Insertion in the PRNP Gene, Molecular Brain Research, 34, 173-6

Laplanche, J.L., et al. (1995) Deletion in Prion Gene in a Moroccan Family, Nucleic Acids Research, 18, 22

Laplanche, J.L., et al. (1995) Two Novel Insertions in the Prion Protein Gene in Patients with Late-Onset Dementia, Human Molecular Genetics, 4, 1109-11

Lugaresi, E., et al. (1986) Fatal Familial Insomnia and Dysautonomia, with Selective Degeneration of Thalmic Nuclei, New England Journal of Medicine, 315, 997-1003

Mastrianni, J.A., et al. (1995) Identification of a New Mutation of the Prion Protein Gene at Codon 128 in a Patient with Creutzfeldt-Jakob Disease, Neurology, 45 (Suppl. 4), A201

Neufeld, M.Y., et al. (1992) Demyelinating Peripheral Neuropathy in Creutzfeldt-Jakob Disease, Muscle and Nerve, 15, 1234-9

Nicholl, D., et al. (1995) Inherited Creutzfeldt-Jakob Disease in a British Family Associated with a Novel 144 Base Pair Insertion of the Prion Protein Gene, Journal of Neurology, Neurosurgery and Psychiatry, 58, 65-9

Nitrini, R., et al. (1997) Familial Spongiform Encephalopathy Associated with a Novel Prion Protein Gene Mutation, Annals of Neurology, 42, 138-46

Oda, T., et al. (1995) Prion Disease with 144 Base Pair Insertion in a Japanese Family Line, Acta Neuropathologica (Berlin), 90, 80-6

Owen, F., et al. (1989) Insertion in Prion Protein Gene in Familial Creutzfeldt-Jakob Disease, The Lancet, 1, 51-2

Palmer, M.S., et al. (1991) Homozygous Prion Protein Genotype Predisposes to Sporadic Creutzfeldt-Jakob Disease, Nature, 352, 340-2

Palmer, M.S., et al. (1993) Deletions in the Prion Protein Gene Are Not Associated With CJD, Human Molecular Genetics, 2, 541-4

Ripoll, L., et al. (1993) A New Point Mutation in the Prion Protein Gene at Codon 210 in Creutzfeldt-Jakob Disease, Neurology, 43, 1934-8

Tagliavini, F., et al. (1993) A68 is a Component of Paired Helical Filaments of Gertsmann-Sträussler-Scheinker Disease, Indiana Kindred, Brain Research, 616, 325-8

Tateishi, J., et al. (1995) First Experimental Transmission of Fatal Familial Insomnia, Nature, 376, 434-5

Telling, G.C., et al. (1995) Prion Propagation in Mice Expressing Human and Chimeric PrP Transgenes Implicates the Interaction of Cellular PrP with another Protein, Cell, 83, 79-90

Wu, Y., et al. (1987) A PvuII RFLP Detected in the Human Prion Protein (PrP) Gene, Nucleic Acids Research, 15, 3191

Young, K., et al. (1997) Gerstmann-Sträussler-Scheinker Disease with the PRNP P102L Mutation and Valine at Codon 129, Brain Research and Molecular Brain Research, 44, 147-50

Young, K., et al. (1998) Gerstmann-Sträussler-Scheinker Disease (GSS) with a Mutation at Prion Protein (PrP) residue 212, Journal of Neuropathology and Experimental Neurology, 57, 518