Evidence map›Paper›PMID 24713662›Full record

ArticleEuropean journal of human genetics : EJHG2014

Predictive testing for inherited prion disease: report of 22 years experience.

Jane Owen, Jon Beck, Tracy Campbell, Gary Adamson, Michele Gorham, Andrew Thompson, Sarah Smithson, Elizabeth Rosser, Peter Rudge, John Collinge and 1 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in European journal of human genetics : EJHG, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

13 citing papers in PubMed.

  1. Mortality of Individuals WithNeurology. Genetics · 2026
    Article
  2. Article
  3. Article
  4. Decoding Huntington's disease: a global survey on symptoms and genetic testing practices.European archives of psychiatry and clinical neuroscience · 2025
    Article
  5. Mortality of individuals with antemortem genetic testing formedRxiv : the preprint server for health sciences · 2025
    Article
  6. Genetic aspects of human prion diseases.Frontiers in neurology · 2022
    Review
  7. Review
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors.

Jane OwenNHS National Prion Clinic, National Hospital for Neurology and Neurosurgery, University College Hospitals NHS Trust, London, UK.
Jon BeckMRC Prion Unit, Department of Neurodegenerative Disease, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.
Tracy CampbellMRC Prion Unit, Department of Neurodegenerative Disease, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.
Gary AdamsonMRC Prion Unit, Department of Neurodegenerative Disease, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.
Michele GorhamNHS National Prion Clinic, National Hospital for Neurology and Neurosurgery, University College Hospitals NHS Trust, London, UK.
Andrew Thompson1] NHS National Prion Clinic, National Hospital for Neurology and Neurosurgery, University College Hospitals NHS Trust, London, UK [2] MRC Prion Unit, Department of Neurodegenerative Disease, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.
Sarah SmithsonClinical Genetics, St Michael's Hospital, Bristol, UK.
Elizabeth RosserClinical Genetics, Great Ormond St Hospital, London, UK.
Peter RudgeNHS National Prion Clinic, National Hospital for Neurology and Neurosurgery, University College Hospitals NHS Trust, London, UK.
John Collinge1] NHS National Prion Clinic, National Hospital for Neurology and Neurosurgery, University College Hospitals NHS Trust, London, UK [2] MRC Prion Unit, Department of Neurodegenerative Disease, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.
Simon Mead1] NHS National Prion Clinic, National Hospital for Neurology and Neurosurgery, University College Hospitals NHS Trust, London, UK [2] MRC Prion Unit, Department of Neurodegenerative Disease, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.

Funding

Medical Research Council G0400713Medical Research Council MC_U123160657
6 · The paper itself

Abstract

The inherited prion diseases (IPD) are a group of untreatable neurodegenerative diseases that segregate as autosomal dominant traits. Mutations in the prion protein gene (PRNP) were first found to be causal of IPD in 1989, before the molecular genetic characterisation of any other neurodegenerative disease. Predictive testing for IPD has subsequently been carried out at a single UK clinical and research centre for 22 years. We have analysed the uptake, consequences and factors influencing the decision for predictive testing over this period. In all, 104 predictive tests were done on individuals at 50% risk, compared with 135 positive diagnostic tests. Using genealogies from clinical records, we estimated that 23% of those at 50% risk have completed testing. There was no gender bias, and unsurprisingly, there was a slight excess of normal results because some patients were already partly through the risk period because of their age. An unexpectedly large number of patients developed symptoms shortly after predictive testing, suggesting that undisclosed early symptoms of disease may prompt some patients to come forward for predictive testing. Fifteen per cent of predictive tests were done >10 years after molecular diagnosis in a proband. A strong determinant of the timing of testing in these patients was a second diagnosis in the family. IPD may generate infectious prions that might be transmitted by surgical procedures; however, we found no evidence that public health information influenced decisions about predictive testing.

Indexed as

AdolescentAdultAgedAged, 80 and overFemaleGenetic LociGenetic TestingHumansMaleMiddle AgedMutationPedigreePhenotypePrion DiseasesPrion ProteinsPrionsPrion ProteinsPrionsPRNP protein, human

Identifiers

PMID24713662
PMCPMC4091984

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Registered trials

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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.