ArticleAmerican journal of human genetics1993
Mutation and polymorphism of the prion protein gene in Libyan Jews with Creutzfeldt-Jakob disease (CJD).
Article in American journal of human genetics, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 101 citations in OpenAlex.
- A Practice Framework for Genetic Testing in Asymptomatic Relatives of Patients With Creutzfeldt-Jakob Disease: Experience and Insights From Israel.European journal of neurology · 2026Article
- Disease duration in E200K familial Creutzfeldt-Jakob disease is correlated with clinical, radiological, and laboratory variables.Journal of neural transmission (Vienna, Austria : 1996) · 2019Article
- Ascertainment bias causes false signal of anticipation in genetic prion disease.American journal of human genetics · 2014Article
- Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations.Human molecular genetics · 2014Review
- Biology and genetics of prions causing neurodegeneration.Annual review of genetics · 2013Review
- Tau and 14-3-3 of genetic and sporadic Creutzfeldt-Jakob disease patients in Israel.Journal of neurology · 2011Article
- Pruritus in familial Creutzfeldt-Jakob disease: a common symptom associated with central nervous system pathology.Journal of neurology · 2011Article
- Rapidly progressive Creutzfeldt-Jakob disease in patients with Familial Mediterranean Fever.European journal of neurology · 2010Article
- Prions, mad cow disease, and preventive measures: a critical appraisal.Medical microbiology and immunology · 2003Article
- Folding pathways of prion and doppel.Biophysical journal · 2002Article
- Age and origin of the PRNP E200K mutation causing familial Creutzfeldt-Jacob disease in Libyan Jews.American journal of human genetics · 2000Article
- Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt-Jakob disease.American journal of human genetics · 1999Article
- Prions.Proceedings of the National Academy of Sciences of the United States of America · 1998Review
- The prion diseases.Brain pathology (Zurich, Switzerland) · 1998Review
- Codon 200 mutation in a new family of Chilean origin with Creutzfeldt-Jakob disease.Journal of neurology, neurosurgery, and psychiatry · 1996Article
- Codon 219 polymorphism of PRNP in healthy Caucasians and Creutzfeldt-Jakob disease patients.American journal of human genetics · 1996Article
- Complete penetrance of Creutzfeldt-Jakob disease in Libyan Jews carrying the E200K mutation in the prion protein gene.Molecular medicine (Cambridge, Mass.) · 1995Article
- Etiology and pathogenesis of prion diseases.The American journal of pathology · 1995Review
- Polymorphisms of the prion protein gene in Italian patients with Creutzfeldt-Jakob disease.Human genetics · 1994Article
- Serial transmission in rodents of neurodegeneration from transgenic mice expressing mutant prion protein.Proceedings of the National Academy of Sciences of the United States of America · 1994Article
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Authors and funding
8 authors at 5 institutions in 2 countries.
Funding
Abstract
The inherited prion diseases are neurodegenerative disorders which are not only genetic but also transmissible. More than a dozen mutations in the prion protein gene that result in nonconservative amino acid substitutions segregate with the inherited prion diseases including familial Creutzfeldt-Jakob disease (CJD). In Israel, the incidence of CJD is about 1 case/10(4) Libyan Jews. A Lys200 substitution segregates with CJD and is reported here to be genetically linked to CJD with a lod score of > 4.8. Some healthy elderly Lys200 carriers > age 65 years were identified, suggesting the possibility of incomplete penetrance. In contrast, no linkage was found between the development of familial CJD and a polymorphism encoding either Met129 or Val129. All Libyan Jewish CJD patients with the Lys200 mutation encode a Met129 on the mutant allele. Homozygosity for Met129 did not correlate with age at disease onset or the duration of illness. The frequency of the Met129 allele was higher in the affected pedigrees than in a control population of Libyan Jews. The frequency of the Met129 and Val129 alleles in the control Libyan population was similar to that found in the general Caucasian population. The identification of three Libyan Jews homozygous for the Lys200 mutation suggests frequent intrafamilial marriages, a custom documented by genealogical investigations.
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8105682PMC1682379W1600134831What OpenQuestion holds
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