ArticlePloS one2008
Evidence for a pathogenic role of different mutations at codon 188 of PRNP.
Article in PloS one, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed.
- Genetic characterization of intramuscular myxomas.Pathology oncology research : POR · 2024Article
- Phenotypic diversity of genetic Creutzfeldt-Jakob disease: a histo-molecular-based classification.Acta neuropathologica · 2021Article
- T188K-Familial Creutzfeldt-Jacob Disease, Predominant Among Chinese, has a Reactive Pattern in CSF RT-QuIC Different from D178N-Fatal Familial Insomnia and E200K-Familial CJD.Neuroscience bulletin · 2019Article
- Clinical and neuropathological phenotype associated with the novel V189I mutation in the prion protein gene.Acta neuropathologica communications · 2019Article
- Genetic PrP Prion Diseases.Cold Spring Harbor perspectives in biology · 2018Review
- Prion disease.Handbook of clinical neurology · 2018Review
- Characterization of mutations inNeuropsychiatric disease and treatment · 2018Review
- Hereditary Human Prion Diseases: an Update.Molecular neurobiology · 2017Review
- Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2017Review
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- Pathologic evidence that the T188R mutation in PRNP is associated with prion disease.Journal of neuropathology and experimental neurology · 2010Article
Corrections and comments
- Erratum issued
Authors and funding
12 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Clinical and pathological changes in familial Creutzfeldt-Jakob disease (CJD) cases may be similar or indistinguishable from sporadic CJD. Therefore determination of novel mutations in PRNP remains of major importance. We identified two different rare mutations in codon 188 of the prion protein gene (PRNP) in four patients suffering from a disease clinically very similar to the major subtype of sporadic CJD. Both mutations result in an exchange of the amino acid residue threonine for a highly basic residue, either arginine (T188R) or lysine (T188K). The T188R mutation was found in one patient and the T188K mutation in three patients. The prevalence of mutations at codon 188 of PRNP was tested in 593 sporadic CJD cases and 735 healthy individuals. Neither mutation was found. The data presented here argue in favor of T188K being a pathogenic mutation causing genetic CJD. Since one individual with this mutation, who is the father of a clinically affected patient with T188K mutation, is now 79 years old and shows no signs of disease, this mutation is likely associated with a penetrance under 100%. Further observations will have to show whether T188R is a pathogenic mutation.
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