ArticleArchives of neurology2011
Clinical characterization of a kindred with a novel 12-octapeptide repeat insertion in the prion protein gene.
Article in Archives of neurology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 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
18 citing papers in PubMed, 30 citations in OpenAlex.
- Pooled analysis of patients with inherited prion disease caused by two- to twelve-octapeptide repeat insertions in the prion protein gene (PRNP).Journal of neurology · 2024Article
- Genetic prion diseases presenting as frontotemporal dementia: clinical features and diagnostic challenge.Alzheimer's research & therapy · 2022Review
- Alterations of Striatal Subregions in a Prion Protein Gene V180I Mutation Carrier Presented as Frontotemporal Dementia With Parkinsonism.Frontiers in aging neuroscience · 2022Article
- Longitudinal clinical, neuropsychological, and neuroimaging characterization of a kindred with a 12-octapeptide repeat insertion inNeurocase · 2020Article
- A case report of genetic prion disease with two different PRNP variants.Molecular genetics & genomic medicine · 2020Article
- Mutations in Prion Protein Gene: Pathogenic Mechanisms in C-Terminal vs. N-Terminal Domain, a Review.International journal of molecular sciences · 2019Review
- Amyloid- and tau-PET imaging in a familial prion kindred.Neurology. Genetics · 2018Article
- Detection of tau in Gerstmann-Sträussler-Scheinker disease (PRNP F198S) by [Acta neuropathologica communications · 2018Article
- Genetic PrP Prion Diseases.Cold Spring Harbor perspectives in biology · 2018Review
- Prion disease.Handbook of clinical neurology · 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
- Distinct Prion Domain Sequences Ensure Efficient Amyloid Propagation by Promoting Chaperone Binding or Processing In Vivo.PLoS genetics · 2016Article
- MRS in early and presymptomatic carriers of a novel octapeptide repeat insertion in the prion protein gene.Journal of neuroimaging : official journal of the American Society of Neuroimaging · 2013Article
- Biology and genetics of prions causing neurodegeneration.Annual review of genetics · 2013Review
- A novel mutation I215V in the PRNP gene associated with Creutzfeldt-Jakob and Alzheimer's diseases in three patients with divergent clinical phenotypes.Journal of neurology · 2013Article
- New approaches to genetic counseling and testing for Alzheimer's disease and frontotemporal degeneration.Current neurology and neuroscience reports · 2012Review
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Corrections and comments
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Authors and funding
17 authors at 4 institutions in 1 country.
Funding
Abstract
objectiveTo report the clinical, electroencephalographic, and neuroradiologic findings in a kindred with a novel insertion in the prion protein gene, PRNP.
designClinical description of a kindred.
settingMayo Clinic Alzheimer Disease Research Center (Rochester, Minnesota). SUBJECTS: Two pathologically confirmed cases and their relatives.
main outcome measuresClinical features, electroencephalographic patterns, magnetic resonance imaging abnormalities, genetic analyses, and neuropathologic features.
resultsThe proband was a woman with clinical and neuroimaging features of atypical frontotemporal dementia and ataxia. Generalized tonic-clonic seizures developed later in the disease course, and electroencephalography revealed spike and wave discharges but no periodic sharp-wave complexes. Her affected sister and father also exhibited frontotemporal dementia-like features, and both experienced generalized tonic-clonic seizures and gait ataxia late in the disease course. Genetic analyses in the proband identified a novel defect in PRNP, with 1 mutated allele carrying a 288-base pair insertion consisting of 12 octapeptide repeats. Neuropathologic examination of the proband and her sister revealed prion protein-positive plaques and widespread tau-positive tangles.
conclusionsThis kindred has a unique combination of clinical and neuropathologic features associated with the largest base pair insertion identified to date in PRNP and underscores the need to consider familial prion disease in the differential diagnosis of a familial frontotemporal dementia-like syndrome.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.