ArticleJournal of neuropathology and experimental neurology2010
Pathologic evidence that the T188R mutation in PRNP is associated with prion disease.
Article in Journal of neuropathology and experimental neurology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
7 citing papers in PubMed, 14 citations in OpenAlex.
- Genetic PrP Prion Diseases.Cold Spring Harbor perspectives in biology · 2018Review
- Characterization of mutations inNeuropsychiatric disease and treatment · 2018Review
- Prion disease.Handbook of clinical neurology · 2018Review
- 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
- Quantifying prion disease penetrance using large population control cohorts.Science translational medicine · 2016Article
- Article
- Genetics of prion diseases.Current opinion in genetics & development · 2013Review
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
Abstract
Human prion diseases can be caused by mutations in the prion protein gene PRNP. Prion disease with mutations at codon 188 has been reported in 6 cases, but only 1 had the T188R mutation and it was not pathologically confirmed. We report the clinical, neuropsychologic, imaging, genetic, and neuropathologic features of a patient with familial Creutzfeldt-Jakob disease, associated with a very rare PRNP mutation at T188R. The patient presented with prominent behavioral changes in addition to the more typical cognitive and motorimpairments seen in sporadic Creutzfeldt-Jakob disease. The autopsy confirmed prion disease pathology. This case supports the pathogenicity of the T188 PRNP mutation, demonstrates the variability of clinical phenotypes associated with certain mutations, and emphasizes the importance of testing for genetic prion disease in cases of apparently sporadic atypical dementia.
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