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Cited by 716

The DOI matches its Crossref record; 4 of the 4 references it cites were found in a registry or an index.

Fatal Familial Insomnia and Familial Creutzfeldt-Jakob Disease: Disease Phenotype Determined by a DNA Polymorphism

Goldfarb, Lev G., Petersen, Robert B., Tabaton, Massimo, Brown, Paul, LeBlanc, Andréa C., Montagna, Pasquale, Cortelli, Pietro, Julien, Jean, Vital, Claude, Pendelbury, William W., Haltia, Matii, Wills, Peter R., Hauw, Jean J., McKeever, Paul E., Monari, Lucia, Schrank, Bertold, Swergold, Gary D., Autilio-Gambetti, Lucila, Gajdusek, D. Carleton, Lugaresi, Elio, Gambetti, Pierluigi·1992·Science
DOI 10.1126/science.1439789
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Abstract

Fatal familial insomnia (FFI) and a subtype of familial Creutzfeldt-Jakob disease (CJD), two clinically and pathologically distinct diseases, are linked to the same mutation at codon 178 (Asn 178 ) of the prion protein gene. The possibility that a second genetic component modified the phenotypic expression of the Asn 178 mutation was investigated. FFI and the familial CJD subtype segregated with different genotypes determined by the Asn 178 mutation and the methionine-valine polymorphism at codon 129. The Met 129 , Asn 178 allele segregated with FFI in all 15 affected members of five kindreds whereas the Val 129 , Asn 178 allele segregated with the familial CJD subtype in all 15 affected members of six kindreds. Thus, two distinct disease phenotypes linked to a single pathogenic mutation can be determined by a common polymorphism.

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Cites

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Research works printed but not linked: 32

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Metadata

Authors
Goldfarb, L. G., Petersen, R. B., Tabaton, M., Brown, P., LeBlanc, A. C., Montagna, P., Cortelli, P., Julien, J., Vital, C., Pendelbury, W. W., Haltia, M., Wills, P. R., Hauw, J. J., McKeever, P. E., Monari, L., Schrank, B., Swergold, G. D., Autilio-Gambetti, L., Gajdusek, D. C., Lugaresi, E., & Gambetti, P.
Venue
Science
Publisher
American Association for the Advancement of Science (AAAS)
Published
1992-10-30
Volume
258
Issue
5083
Pages
806-808
ISSN
  • 0036-8075 (ISSN-L)
  • 1095-9203
DOI
10.1126/science.1439789
OpenAlex
W2048041842
Cited by
716
References
4
FWCI
11.58
Type
journal article
Language
en
Open access
closed

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CoChat. (2026). Citation check: Fatal Familial Insomnia and Familial Creutzfeldt-Jakob Disease: Disease Phenotype Determined by a DNA Polymorphism. https://app.cochat.ai/papers/10.1126/science.1439789
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Goldfarb, L. G., Petersen, R. B., Tabaton, M., Brown, P., LeBlanc, A. C., Montagna, P., Cortelli, P., Julien, J., Vital, C., Pendelbury, W. W., Haltia, M., Wills, P. R., Hauw, J. J., McKeever, P. E., Monari, L., Schrank, B., Swergold, G. D., Autilio-Gambetti, L., Gajdusek, D. C., . . . Gambetti, P. (1992). Fatal Familial Insomnia and Familial Creutzfeldt-Jakob Disease: Disease Phenotype Determined by a DNA Polymorphism. Science. https://doi.org/10.1126/science.1439789

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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

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