ReviewAmerican journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics2017
Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature.
Review in American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 3 of them syntheses that pooled it.
What it found
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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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
41 citing papers in PubMed, 3 syntheses or guidelines pooled it, 104 citations in OpenAlex.
- Genetic Creutzfeldt-Jakob disease associated with 5-octapeptide repeat insertion in the PRNP gene: case and pedigree report and literature review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Pooled it
- The first meta-analysis of the G96S single nucleotide polymorphism (SNP) of the prion protein gene (Frontiers in veterinary science · 2024Pooled it
- Movement Disorders in Prionopathies: A Systematic Review.Tremor and other hyperkinetic movements (New York, N.Y.) · 2019Pooled it
- Review
- DNA methylation age acceleration mediates the relationship between systemic inflammation and cognitive impairment.Epigenomics · 2025Article
- Inherited Prion Disease with a 5-octapeptide Repeat Insertion in the PRNP Gene Presenting with Familial Juvenile Dementia.Internal medicine (Tokyo, Japan) · 2025Article
- Sleep disturbance in clinical and preclinical scrapie-infected sheep measured by polysomnography.The veterinary quarterly · 2024Article
- 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
- Biomarker changes preceding symptom onset in genetic prion disease.medRxiv : the preprint server for health sciences · 2023Article
- Caregiver Experiences Navigating the Diagnostic Journey in a Rapidly Progressing Dementia.Journal of geriatric psychiatry and neurology · 2023Article
- The manifold role of octapeptide repeats in prion protein assembly.Peptide science (Hoboken, N.J.) · 2023Article
- Measuring prion propagation in single bacteria elucidates mechanism of loss.bioRxiv : the preprint server for biology · 2023Article
- Article
- Article
- Hereditary E200K mutation within the prion protein gene alters human iPSC derived cardiomyocyte function.Scientific reports · 2022Article
- Genetic investigation of dementias in clinical practice.Arquivos de neuro-psiquiatria · 2022Review
- Diagnostic accuracy of cerebrospinal fluid biomarkers in genetic prion diseases.Brain : a journal of neurology · 2022Article
- Genetic Screening in Korean Patients with Frontotemporal Dementia Syndrome.Journal of Alzheimer's disease reports · 2022Article
- Case Report: Genetic Creutzfeldt-Jakob Disease With a G114V Mutation and One Octapeptide Repeat Deletion as a Mimic of Frontotemporal Dementia.Frontiers in neurology · 2022Article
- Characteristics of Chinese patients with genetic CJD who have E196A or E196K mutation inBMJ open · 2021Article
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 3 countries.
Funding
Abstract
Although prion diseases are generally thought to present as rapidly progressive dementias with survival of only a few months, the phenotypic spectrum for genetic prion diseases (gPrDs) is much broader. The majority have a rapid decline with short survival, but many patients with gPrDs present as slowly progressive ataxic or parkinsonian disorders with progression over a few to several years. A few very rare mutations even present as neuropsychiatric disorders, sometimes with systemic symptoms such as gastrointestinal disorders and neuropathy, progressing over years to decades. gPrDs are caused by mutations in the prion protein gene (PRNP), and have been historically classified based on their clinicopathological features as genetic Jakob-Creutzfeldt disease (gJCD), Gerstmann-Sträussler-Scheinker (GSS), or Fatal Familial Insomnia (FFI). Mutations in PRNP can be missense, nonsense, and octapeptide repeat insertions or a deletion, and present with diverse clinical features, sensitivities of ancillary testing, and neuropathological findings. We present the UCSF gPrD cohort, including 129 symptomatic patients referred to and/or seen at UCSF between 2001 and 2016, and compare the clinical features of the gPrDs from 22 mutations identified in our cohort with data from the literature, as well as perform a literature review on most other mutations not represented in our cohort. E200K is the most common mutation worldwide, is associated with gJCD, and was the most common in the UCSF cohort. Among the GSS-associated mutations, P102L is the most commonly reported and was also the most common at UCSF. We also had several octapeptide repeat insertions (OPRI), a rare nonsense mutation (Q160X), and three novel mutations (K194E, E200G, and A224V) in our UCSF cohort. © 2016 Wiley Periodicals, Inc.
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