Familial spongiform encephalopathy associated with a novel prion protein gene mutation
Abstract
Human prion diseases include Creutzfeldt‐Jakob disease, Gerstmann‐Sträussler‐Scheinker disease, fatal familial insomnia, and kuru. Each of these diseases has a specific clinical presentation while spongiform encephalopathy, neuronal loss, and gliosis are their neuropathological hallmarks. We studied a Brazilian family with an autosomal dominant form of dementia. Nine members of the family were affected by a dementia with frontotemporal clinical features, with a mean age at onset of 44.8 ± 3.8 years and a mean duration of symptoms of 4.2 ± 2.4 years. Neuropathological examination of 3 patients showed severe spongiform change and neuronal loss in the deep cortical layers and in the putamen, but minimal gliosis in the most severely affected areas. The putamen and cerebellum, but not other areas of the affected brain, displayed prion protein immunoreactivity. A novel prion protein gene mutation causing a nonconservative substitution at codon 183 was identified in 2 neuropathologically confirmed affected individuals (mother and son). The mutation was transmitted in a mendelian fashion to 12 members of the family. Therefore, we identified a novel prion disease variant characterized by an early onset and long duration of the symptoms, severe spongiform change with minimal gliosis, associated with a prion protein gene mutation at codon 183.
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Mutation of the prion protein gene causes inherited prion diseases and aggressive behavior in humans.
“Another example is the gene for prion protein, the mutation of which causes inherited prion diseases and aggressive behavior in humans [21].”
From An integrated analysis of genes and functional pathways for aggression in human and rodent models (2019) · cites this paper as [21]
Cites
Folstein, M. F., Folstein, S. E., & McHugh, P. R. (1975) · Journal of Psychiatric Research · doi:10.1016/0022-3956(75)90026-6 · Cited by 88,282 · see citing works
Molecular cloning: A laboratory manual
Deininger, P. L. (1990) · Analytical Biochemistry · doi:10.1016/0003-2697(90)90595-z · Cited by 84,684 · see citing works
A simple salting out procedure for extracting DNA from human nucleated cells
Miller, S. A., Dykes, D. D., & Polesky, H. F. (1988) · Nucleic Acids Research · doi:10.1093/nar/16.3.1215 · Cited by 20,341 · see citing works
Pan, K. M., Baldwin, M. A., Nguyen, J. T., Gasset, M., Serban, A. V., Groth, D., Mehlhorn, I., Huang, Z., Fletterick, R. J., & Cohen, F. E. (1993) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.90.23.10962 · Cited by 2,281 · see citing works
Clinical and neuropathological criteria for frontotemporal dementia. The Lund and Manchester Groups.
(1994) · Journal of Neurology, Neurosurgery & Psychiatry · doi:10.1136/jnnp.57.4.416 · Cited by 1,331 · see citing works
NMR structure of the mouse prion protein domain PrP(121–231)
Riek, R., Hornemann, S., Wider, G., Billeter, M., Glockshuber, R., & Wüthrich, K. (1996) · Nature · doi:10.1038/382180a0 · Cited by 1,261 · see citing works
Homozygous prion protein genotype predisposes to sporadic Creutzfeldt–Jakob disease
Palmer, M. S., Dryden, A. J., Hughes, J. T., & Collinge, J. (1991) · Nature · doi:10.1038/352340a0 · Cited by 890 · see citing works
Unconventional Viruses and the Origin and Disappearance of Kuru
Gajdusek, D. C. (1977) · Science · doi:10.1126/science.142303 · Cited by 890 · see citing works
Mouse polyclonal and monoclonal antibody to scrapie-associated fibril proteins
Kascsak, R., Rubenstein, R., MERZ, P. A., Tonna-DeMasi, M., Fersko, R., Carp, R. I., Wisniewski, H. M., & Diringer, H. (1987) · Journal of Virology · doi:10.1128/jvi.61.12.3688-3693.1987 · Cited by 765 · see citing works
Goldfarb, L. G., Petersen, R. B., Tabaton, M., Brown, P., LeBlanc, A. C., Montagna, P., Cortelli, P., Julien, J., Vital, C., Pendelbury, W. W., et al. (1992) · Science · doi:10.1126/science.1439789 · Cited by 713 · see citing works
Self-citationFatal Familial Insomnia and Dysautonomia with Selective Degeneration of Thalamic Nuclei
Lugaresi, E., Medori, R., Montagna, P., Baruzzi, A., Cortelli, P., Lugaresi, A., Tinuper, P., Zucconi, M., & Gambetti, P. L. (1986) · New England Journal of Medicine · doi:10.1056/nejm198610163151605 · Cited by 640 · see citing works
Fatal Familial Insomnia, a Prion Disease with a Mutation at Codon 178 of the Prion Protein Gene
Medori, R., Tritschler, H., LeBlanc, A., Villare, F., Manetto, V., Chen, H. Y., Xue, R., Leal, S. M., Montagna, P., Cortelli, P., et al. (1992) · New England Journal of Medicine · doi:10.1056/nejm199202133260704 · Cited by 605 · see citing works
Self-citationFormic acid pretreatment enhances immunostaining of cerebral and systemic amyloids.
Kitamoto, T., Ogomori, K., Tateishi, J., & Prusiner, S. B. (1987) · PubMed · Cited by 472 · see citing works
Budka, H., Aguzzi, A., Brown, P., Brucher, J., Bugiani, O., Gullotta, F., Haltia, M., Hauw, J., Ironside, J. W., Jellinger, K. A., et al. (1995) · Brain Pathology · doi:10.1111/j.1750-3639.1995.tb00625.x · Cited by 428 · see citing works
Brown, P., Cathala, F., Castaigne, P., & Gajdusek, D. C. (1986) · Annals of Neurology · doi:10.1002/ana.410200507 · Cited by 398 · see citing works
Molecular Cloning of a Human Prion Protein cDNA
Kretzschmar, H. A., Stowring, L., Westaway, D. A., Stubblebine, W. H., Prusiner, S. B., & DeArmond, S. J. (1986) · DNA · doi:10.1089/dna.1986.5.315 · Cited by 342 · see citing works
Prusiner, S. B., & Hsiao, K. (1994) · Annals of Neurology · doi:10.1002/ana.410350404 · Cited by 328 · see citing works
Mutation of the Prion Protein in Libyan Jews with Creutzfeldt–Jakob Disease
Hsiao, K., Meiner, Z., Kahana, E., Cass, C., Kahana, I., Avrahami, D., Scarlato, G., Abramsky, O., Prusiner, S. B., & Gabizon, R. (1991) · New England Journal of Medicine · doi:10.1056/nejm199104183241604 · Cited by 277 · see citing works
Prion dementia without characteristic pathology
Collinge, J., Owen, F., Poulter, M., Leach, M., Crow, T. J., Rossor, M. N., Hardy, J., MULLAN, M. J., Janota, I., & Lantos, P. L. (1990) · The Lancet · doi:10.1016/0140-6736(90)91518-f · Cited by 229 · see citing works
Etiology and pathogenesis of prion diseases.
DeArmond, S. J., & Prusiner, S. B. (1995) · Europe PMC (PubMed Central) · Cited by 219 · see citing works
Gambetti, P. L., Parchi, P., Petersen, R. B., Chen, S. G., & Lugaresi, E. (1995) · Brain Pathology · doi:10.1111/j.1750-3639.1995.tb00576.x · Cited by 213 · see citing works
Tagliavini, F., Prelli, F., Ghiso, J. A., et al. (1991) · The EMBO Journal · doi:10.1002/j.1460-2075.1991.tb07977.x · Cited by 199 · see citing works
Ghetti, B. F., Tagliavini, F., Masters, C. L., Beyreuther, K. T., Giaccone, G., Verga, L., Farlow, M. R., Conneally, P. M., Dlouhy, S. R., Azzarelli, B., et al. (1989) · Neurology · doi:10.1212/wnl.39.11.1453 · Cited by 178 · see citing works
INHERITED PRION DISEASE WITH 144 BASE PAIR GENE INSERTION: 2. CLINICAL AND PATHOLOGICAL FEATURES
Collinge, J., Brown, J. M., Hardy, J., et al. (1992) · Brain · doi:10.1093/brain/115.3.687 · Cited by 171 · see citing works
New mutation in scrapie amyloid precursor gene (at codon 178) in Finnish Creutzfeldt-Jakob kindred
Goldfarb, L. G., Haltia, M., Brown, P., Nieto, A., Kovanen, J., McCombie, W. R., Trapp, S., & Gajdusek, D. C. (1991) · The Lancet · doi:10.1016/0140-6736(91)91198-4 · Cited by 169 · see citing works
Inherited human prion diseases
Hsiao, K., & Prusiner, S. B. (1990) · Neurology · doi:10.1212/wnl.40.12.1820 · Cited by 159 · see citing works
Hsiao, K., Cass, C., Schellenberg, G. D., Bird, T. D., Devine-Gage, E. A., Wisniewski, H., & Prusiner, S. B. (1991) · Neurology · doi:10.1212/wnl.41.5.681 · Cited by 153 · see citing works
Gerstmann‐Sträussler‐Scheinker Disease and the Indiana Kindred
Ghetti, B. F., Dlouhy, S. R., Giaccone, G., Bugiani, O., Frangione, B., Farlow, M. R., & Tagliavini, F. (1995) · Brain Pathology · doi:10.1111/j.1750-3639.1995.tb00578.x · Cited by 151 · see citing works
Codon 129 changes in the prion protein gene in Caucasians.
Owen, F., Poulter, M., Collinge, J., & Crow, T. J. (1990) · Europe PMC (PubMed Central) · Cited by 129 · see citing works
A new point mutation of the prion protein gene in Creutzfeldt‐Jakob disease
Pocchiari, M., Salvatore, M., Cutruzzolà, F., Genuardi, M., Travaglini‐Allocatelli, C., Masullo, C., Macchi, G., Alemà, G., Galgani, S., Xi, Y. G., et al. (1993) · Annals of Neurology · doi:10.1002/ana.410340608 · Cited by 108 · see citing works
Inherited Prion Diseases and Transmission to Rodents
Tateishi, J., & Kitamoto, T. (1995) · Brain Pathology · doi:10.1111/j.1750-3639.1995.tb00577.x · Cited by 106 · see citing works
Synaptic degeneration is the primary neuropathological feature in prion disease
Clinton, J., Forsyth, C. S., Royston, M. C., et al. (1993) · Neuroreport · doi:10.1097/00001756-199301000-00017 · Cited by 103 · see citing works
Brown, P., Goldfarb, L. G., Kovanen, J., Haltia, M., Cathala, F., Sulima, M. P., Gibbs, C. J., & Gajdusek, D. C. (1992) · Annals of Neurology · doi:10.1002/ana.410310309 · Cited by 95 · see citing works
Rogers, M. S., Taraboulos, A., Scott, M., et al. (1990) · Glycobiology · doi:10.1093/glycob/1.1.101 · Cited by 85 · see citing works
Richardson, E. P., & Masters, C. L. (1995) · Brain Pathology · doi:10.1111/j.1750-3639.1995.tb00575.x · Cited by 80 · see citing works
Prusiner, S. B. (1994) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.91.11.4611 · Cited by 76 · see citing works
Miyazono, M., Kitamoto, T., Iwaki, T., et al. (1992) · Acta Neuropathologica · doi:10.1007/bf00713522 · Cited by 66 · see citing works
The phenotypic expression of different mutations in transmissible familial Creutzfeldt-Jakob disease
Brown, P., Goldfarb, L. G., Gibbs, C. J., et al. (1991) · European Journal of Epidemiology · doi:10.1007/bf00143124 · Cited by 65 · see citing works
Familial myoclonic dementia masquerading as Creutzfeldt‐Jakob disease
Little, B. W., Brown, P., Rodgers‐Johnson, P., Perl, D. P., & Gajdusek, D. C. (1986) · Annals of Neurology · doi:10.1002/ana.410200209 · Cited by 51 · see citing works
Correction: Novel myosin heavy chain encoded by murine dilute coat colour locus
Mercer, J. A., Seperack, P. K., Strobel, M. C., et al. (1991) · Nature · doi:10.1038/352547b0 · Cited by 10 · see citing works
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- Authors
- Nitrini, R., Rosemberg, S., Passos‐Bueno, M. R., da Silva, L. S. T., Iughetti, P., Papadopoulos, M., Carrilho, P. M., Caramelli, P., Albrecht, S., Zatz, M., & LeBlanc, A.
- Affiliations
- Universidade Estadual de Londrina (BR)
- Jewish General Hospital (CA)
- Venue
- Annals of Neurology
- Publisher
- Wiley
- Published
- 1997-08
- Volume
- 42
- Issue
- 2
- Pages
- 138-146
- ISSN
- 0364-5134 (ISSN-L)
- 1531-8249
- OpenAlex
- W2043492740
- Cited by
- 106
- References
- 40
- Citations by year
- 2024: 2 · 2023: 3 · 2021: 3 · 2020: 1 · 2019: 2 · 2018: 7 · 2017: 3 · 2016: 6 · 2015: 6 · 2014: 2 · 2013: 5 · 2012: 4
- FWCI
- 1.78
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Annals of Neurology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Prion Diseases and Protein Misfolding
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Amyloidosis: Diagnosis, Treatment, Outcomes
- Keywords
- prion protein gene mutation, frontotemporal dementia, prion disease, spongiform change, neuronal loss, putamen, cerebellum, family transmission, Creutzfeldt-Jakob disease, Gerstmann-Sträussler-Scheinker disease, fatal familial insomnia, kuru
- MeSH terms
- Adult, Amino Acid Sequence, Base Sequence, Brain, Brazil, Exons, Female, Genes, Dominant, Humans, Male, Middle Aged, Mutation, Pedigree, Prions, Gerstmann-Straussler-Scheinker Disease, Polymerase Chain Reaction, Prion Diseases, Age of Onset, DNA Primers
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