ArticleJournal of neurology2013
A novel mutation I215V in the PRNP gene associated with Creutzfeldt-Jakob and Alzheimer's diseases in three patients with divergent clinical phenotypes.
Article in Journal of neurology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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15 citing papers in PubMed, 26 citations in OpenAlex.
- Identification of Two Early Folding Stage Prion Non-Local Contacts Suggested to Serve as Key Steps in Directing the Final Fold to Be Either Native or Pathogenic.International journal of molecular sciences · 2021Article
- Atomic insights into the effects of pathological mutants through the disruption of hydrophobic core in the prion protein.Scientific reports · 2019Article
- Recent advances in the histo-molecular pathology of human prion disease.Brain pathology (Zurich, Switzerland) · 2019Review
- Early-onset Alzheimer's disease patient with prionNeuropsychiatric disease and treatment · 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
- Mutational analysis of PRNP in Alzheimer's disease and frontotemporal dementia in China.Scientific reports · 2016Article
- Lack of association of the M129V polymorphism of the PRNP gene with pseudoexfoliation syndrome.Clinical ophthalmology (Auckland, N.Z.) · 2016Article
- Drivers: A Biologically Contextualized, Cross-Inferential View of the Epidemiology of Neurodegenerative Disorders.Journal of Alzheimer's disease : JAD · 2016Article
- Additional mechanisms conferring genetic susceptibility to Alzheimer's disease.Frontiers in cellular neuroscience · 2015Review
- Neurological update: dementia.Journal of neurology · 2014Review
- Prediction of disease genes using tissue-specified gene-gene network.BMC systems biology · 2014Article
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Authors and funding
10 authors at 6 institutions in 1 country.
Funding
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Abstract
Genetic human prion diseases are autosomal dominant disorders associated with different mutations in the PRNP gene that are manifested as distinct clinical phenotypes. Here, we report a new pathogenic missense mutation (c.[643A>G], p.[I215V]) in the PRNP gene associated with three pathologically confirmed cases: two of Creutzfeldt-Jakob disease (CJD) and one of Alzheimer's disease (AD) in two different families from the same geographical region in Spain. This mutation has not been found in any of more than 2,000 control cases studied. It represents a conservative amino acid change, and the same change is observed in the PRNP gene from other species. The two CJD cases were homozygous at codon 129 (M/M), but showed divergent clinical phenotypes with onset at ages 55 and 77 years and illness durations of 15 and 6 months, respectively. The postmortem neuropathological analysis of these cases showed homogeneous features compatible with CJD. Interestingly, the AD case (a brother of one of the CJD cases) was heterozygous at codon 129 (M/V). No familiar history was documented for any of the cases, suggesting a de novo mutation, or a partial, age-dependent penetration of the mutation, perhaps related to codon 129 status. This new mutation extends the list of known pathogenic mutations responsible for genetic CJD, reinforces the clinical heterogeneity of the disease, and advocates for the inclusion of PRNP gene examination in the diagnostic workup of patients with poorly classifiable dementia, even in the absence of family history.
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