Evidence map›Paper›PMID 24819148›Full record

Trial reportNeurobiology of aging2014

Hippocampal sclerosis dementia with the C9ORF72 hexanucleotide repeat expansion.

Olga Pletnikova, Kelly L Sloane, Alan E Renton, Bryan J Traynor, Barbara J Crain, Tammy Reid, Tao Zu, Laura P W Ranum, Juan C Troncoso, Peter V Rabins and 1 more

Abstract readClinical Trial
PubMed Full text at PMC Publisher
In one paragraph

Trial report in Neurobiology of aging, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed, 1 pooled it
–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

15 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Journal of personalized medicine · 2023
    Article
  4. Article
  5. Synaptic Dysfunction and Plasticity in Amyotrophic Lateral Sclerosis.International journal of molecular sciences · 2023
    Review
  6. Article
  7. Review
  8. Article
  9. Review
  10. Viral delivery ofDisease models & mechanisms · 2017
    Article
  11. Update on Hippocampal Sclerosis.Current neurology and neuroscience reports · 2015
    Review
  12. Article
  13. Review
  14. Review
  15. 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.

Olga PletnikovaDivision of Neuropathology, Department of Pathology, Johns Hopkins University, Baltimore, MD, USA.
Kelly L SloaneDivision of Geriatric Psychiatry and Neuropsychiatry, Department of Psychiatry and Behavioral Sciences, Johns Hopkins University, Baltimore, MD, USA.
Alan E RentonNeuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
Bryan J TraynorNeuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA; Brain Sciences Institute, Johns Hopkins University, Baltimore, MD, USA.
Barbara J CrainDivision of Neuropathology, Department of Pathology, Johns Hopkins University, Baltimore, MD, USA.
Tammy ReidCenter for NeuroGenetics, Department of Molecular Genetics and Microbiology, College of Medicine, University of Florida, Gainsville, FL, USA; Genetics Institute, Department of Neurology, College of Medicine, University of Florida, Gainesville, FL, USA.
Tao ZuCenter for NeuroGenetics, Department of Molecular Genetics and Microbiology, College of Medicine, University of Florida, Gainsville, FL, USA; Genetics Institute, Department of Neurology, College of Medicine, University of Florida, Gainesville, FL, USA.
Laura P W RanumCenter for NeuroGenetics, Department of Molecular Genetics and Microbiology, College of Medicine, University of Florida, Gainsville, FL, USA; Genetics Institute, Department of Neurology, College of Medicine, University of Florida, Gainesville, FL, USA.
Juan C TroncosoDivision of Neuropathology, Department of Pathology, Johns Hopkins University, Baltimore, MD, USA; Department of Neurology, Johns Hopkins University, Baltimore, MD, USA.
Peter V RabinsDivision of Geriatric Psychiatry and Neuropsychiatry, Department of Psychiatry and Behavioral Sciences, Johns Hopkins University, Baltimore, MD, USA.
Chiadi U OnyikeDivision of Geriatric Psychiatry and Neuropsychiatry, Department of Psychiatry and Behavioral Sciences, Johns Hopkins University, Baltimore, MD, USA. Electronic address: conyike1@johnshopkins.edu.

Funding

'T V ASSESSMENT - MEMORY DISORDERED PATIENTS'P50AG005146 · NIA · JOHNS HOPKINS UNIVERSITY · PI HUGANIR, RICHARD L · 1985 to 2019
$37.6M
Temporal/spatial RNA Expression Effects in DM1 and DM2P01NS058901 · NINDS · UNIVERSITY OF MINNESOTA · PI RANUM, LAURA P.W · 2008 to 2017
$12.3M
Genetic etiology of Fronto-Temporal Dementia, a dementia related to Alzheimers diseaseZIAAG000934 · NIA · NATIONAL INSTITUTE ON AGING · PI TRAYNOR, BRYAN · 2009 to 2025
$5.2M
MOLECULAR GENETIC CHARACTERIZATION OF SCA8R01NS040389 · NINDS · UNIVERSITY OF MINNESOTA TWIN CITIES · PI RANUM, LAURA P.W · 2000 to 2010
$3.8M
Genome wide SNP analysis in Parkinson's diseaseZ01AG000949 · NIA · NATIONAL INSTITUTE ON AGING · PI SINGLETON, ANDREW B · 2006 to 2008
$2.6M
Intramural NIH HHS Z01 AG000949NIA NIH HHS P50 AG005146NINDS NIH HHS P01 NS058901NINDS NIH HHS R01 NS040389
6 · The paper itself

Abstract

Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are the main syndromes of the chromosome 9 ORF72 (C9ORF72) hexanucleotide repeat expansion, but studies have shown a substantial phenotypic diversity that includes psychiatric presentations. This study describes hippocampal sclerosis dementia (HSD) in carriers of the C9ORF72 mutation. We compared clinical and neuropathological features of HSD in carriers and noncarriers autopsied at Johns Hopkins. Carriers presented with amnesia, agitation, dissocial behavior, and impaired self-care, whereas noncarriers showed little agitation. The groups were not dissimilar in cognitive or motor dysfunction. Neuropathological examination of carriers showed cerebellar neuronal inclusions positive for ubiquitin, p62, and ubiquilin-2, and negative for TAR DNA-binding protein 43. Noncarriers did not have cerebellar inclusions. C9ORF72 repeat-associated non-ATG translation was confirmed by immunohistochemistry. These observations broaden the C9ORF72 phenotype and place HSD in the FTD spectrum. The amnesic phenotype of HSD, which is consistent with the focal hippocampal atrophy, should be included in clinical categorizations of FTD.

Indexed as

Genetic Association StudiesMutationAgedAged, 80 and overC9orf72 ProteinDNA Repeat ExpansionFemaleFrontotemporal DementiaHeterozygoteHippocampusHumansMaleMiddle AgedProteinsSclerosisC9orf72 ProteinC9orf72 protein, humanProteinsC9ORF72 hexanucleotide repeat expansionDementiaFrontotemporal dementiaHippocampal sclerosis

Identifiers

PMID24819148
PMCPMC4087047

What OpenQuestion holds

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Read underepoch 390

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.