Evidence map›Paper›PMID 27716661›Full record

ArticleJournal of Alzheimer's disease : JAD2017

Genetic Prion Disease Caused by PRNP Q160X Mutation Presenting with an Orbitofrontal Syndrome, Cyclic Diarrhea, and Peripheral Neuropathy.

Jamie C Fong, Julio C Rojas, Jee Bang, Andrea Legati, Katherine P Rankin, Sven Forner, Zachary A Miller, Anna M Karydas, Giovanni Coppola, Carrie K Grouse and 3 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of Alzheimer's disease : JAD, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
1.9field-weighted citation impact, top 14% of its field
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

10 citing papers in PubMed, 25 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Two novelAnnals of clinical and translational neurology · 2018
    Article
  6. Genetic PrP Prion Diseases.Cold Spring Harbor perspectives in biology · 2018
    Review
  7. Characterization of mutations inNeuropsychiatric disease and treatment · 2018
    Review
  8. Review
  9. Prion disease.Handbook of clinical neurology · 2018
    Review
  10. 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 · 2017
    Review
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

13 authors at 3 institutions in 1 country.

Jamie C FongDepartment of Neurology, Memory and Aging Center, University of California, San Francisco, CA, USA.
Julio C RojasDepartment of Neurology, Memory and Aging Center, University of California, San Francisco, CA, USA.
Jee BangDepartment of Neurology, Memory and Aging Center, University of California, San Francisco, CA, USA.
Andrea LegatiDepartments of Psychiatry and Neurology, University of California, Los Angeles, CA, USA.
Katherine P RankinDepartment of Neurology, Memory and Aging Center, University of California, San Francisco, CA, USA.
Sven FornerDepartment of Neurology, Memory and Aging Center, University of California, San Francisco, CA, USA.
Zachary A MillerDepartment of Neurology, Memory and Aging Center, University of California, San Francisco, CA, USA.
Anna M KarydasDepartment of Neurology, Memory and Aging Center, University of California, San Francisco, CA, USA.
Giovanni CoppolaDepartments of Psychiatry and Neurology, University of California, Los Angeles, CA, USA.
Carrie K GrouseDepartment of Neurology, Spine & Nerve EMG Unit, University of California, San Francisco, CA, USA.
Jeffrey RalphDepartment of Neurology, Spine & Nerve EMG Unit, University of California, San Francisco, CA, USA.
Bruce L MillerDepartment of Neurology, Memory and Aging Center, University of California, San Francisco, CA, USA.
Michael D GeschwindDepartment of Neurology, Memory and Aging Center, University of California, San Francisco, CA, USA.
University of California, San Francisco · USUniversity Memory and Aging Center · USUniversity of California, Los Angeles · US

Funding

UCSF CLINICAL AND TRANSLATIONAL SCIENCE INSTITUTEUL1RR024131 · NCRR · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI JOHNSTON, S. CLAIBORNE · 2006 to 2011
$111.2M
UNDERSTANDING AND IMPROVING SMALL MOLECULE INHIBITORS OF PRION REPLICATIONP01AG021601 · NIA · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI PRUSINER, STANLEY B · 2003 to 2013
$31.9M
UC Davis Alzheimer's Disease Core CenterP30AG010129 · NIA · UNIVERSITY OF CALIFORNIA DAVIS · PI DECARLI, CHARLES · 1991 to 2020
$28.3M
PrPSc SPECIFIC INTERACTION WITH NOVEL PrP-Fc FUSION PROTEINSP50AG023501 · NIA · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI HUANG, YADONG · 2004 to 2018
$27.1M
Multidisciplinary Research Fellowship in Alzheimer’s disease and Related DementiasT32AG023481 · NIA · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI BRUCE L MILLER, HOWARD J ROSEN · 2005 to 2026
$7.4M
Predicting progression of human prion diseaseR01AG031189 · NIA · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI GESCHWIND, MICHAEL D · 2008 to 2017
$5.7M
Attention and Semantic Evaluation as Predictors of Empathy in Healthy Aging and Frontotemporal DementiaRF1AG029577 · NIA · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI RANKIN, KATHERINE P · 2019 to 2019
$4.0M
Measuring Altered Social Behavior in Neurodegenerative DiseaseR01AG029577 · NIA · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI RANKIN, KATHERINE P · 2008 to 2018
$3.6M
New Clinical Approaches to Creutzfeldt-Jakob DiseaseK23AG021989 · NIA · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI GESCHWIND, MICHAEL D · 2003 to 2007
$602k
NCRR NIH HHS UL1 RR024131NIA NIH HHS K23 AG021989NIA NIH HHS L30 AG024892NIA NIH HHS P01 AG021601NIA NIH HHS P30 AG010129NIA NIH HHS P50 AG023501NIA NIH HHS R01 AG031189NIA NIH HHS RF1 AG029577NIA NIH HHS T32 AG023481
6 · The paper itself

Abstract

Patients with pathogenic truncating mutations in the prion gene (PRNP) usually present with prolonged disease courses with severe neurofibrillary tangle and cerebral amyloidosis pathology, but more atypical phenotypes also occur, including those with dysautonomia and peripheral neuropathy. We describe the neurological, cognitive, neuroimaging, and electrophysiological features of a 31-year-old man presenting with an orbitofrontal syndrome, gastrointestinal symptoms, and peripheral neuropathy associated with PRNP Q160X nonsense mutation, with symptom onset at age 27. The mutation was also detected in his asymptomatic father and a symptomatic paternal cousin; several members of prior generations died from early onset dementia. This is the first report of a family affected with the nonsense PRNP mutation Q160X displaying clear autosomal dominant disease in multiple family members and reduced penetrance. This case strengthens the evidence suggesting an association between PRNP truncating mutations and prion systemic amyloidosis. PRNP gene testing should be considered in any patient with atypical dementia, especially with early onset and neuropathy, even in the absence of a family history.

Indexed as

Codon, NonsenseAdultBrainDisease ProgressionFollow-Up StudiesHumansLongitudinal StudiesMalePedigreePeripheral NervesPhenotypePrion DiseasesPrion ProteinsCodon, NonsensePrion ProteinsPRNP protein, humanAmyloidosisDNA sequencingdysautonomiaexomemutationperipheral neuropathyprion dementia

Identifiers

PMID27716661
PMCPMC5149415
OpenAlexW2528858548

What OpenQuestion holds

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Registered trials

None linked

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.