Evidence map›Paper›PMID 27488601›Full record

ArticleNeurology2016

Comparative analysis of C9orf72 and sporadic disease in an ALS clinic population.

Mfon E Umoh, Christina Fournier, Yingjie Li, Meraida Polak, Latoya Shaw, John E Landers, William Hu, Marla Gearing, Jonathan D Glass

Open access · bronzeAbstract readComparative Study
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
56citing papers in PubMed, 2 pooled it
5.2field-weighted citation impact, top 4% 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

56 citing papers in PubMed, 2 syntheses or guidelines pooled it, 93 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Longitudinal imaging inNeuroImage. Clinical · 2016
    Trial
  4. Atypical features including acquired oculomotor apraxia inJournal of neuromuscular diseases · 2026
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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

9 authors at 1 institution in 1 country.

Mfon E UmohFrom the Center for Neurodegenerative Disease (M.E.U., W.H., M.G., J.D.G.), Department of Neurology (M.E.U., C.F., Y.L., M.P., L.S., W.H., M.G., J.D.G.), and Pathology and Laboratory Medicine (M.G., J.D.G.), Emory University School of Medicine, Atlanta, GA; and the Department of Neurology (J.E.L.), University of Massachusetts Medical School, Worcester.
Christina FournierFrom the Center for Neurodegenerative Disease (M.E.U., W.H., M.G., J.D.G.), Department of Neurology (M.E.U., C.F., Y.L., M.P., L.S., W.H., M.G., J.D.G.), and Pathology and Laboratory Medicine (M.G., J.D.G.), Emory University School of Medicine, Atlanta, GA; and the Department of Neurology (J.E.L.), University of Massachusetts Medical School, Worcester.
Yingjie LiFrom the Center for Neurodegenerative Disease (M.E.U., W.H., M.G., J.D.G.), Department of Neurology (M.E.U., C.F., Y.L., M.P., L.S., W.H., M.G., J.D.G.), and Pathology and Laboratory Medicine (M.G., J.D.G.), Emory University School of Medicine, Atlanta, GA; and the Department of Neurology (J.E.L.), University of Massachusetts Medical School, Worcester.
Meraida PolakFrom the Center for Neurodegenerative Disease (M.E.U., W.H., M.G., J.D.G.), Department of Neurology (M.E.U., C.F., Y.L., M.P., L.S., W.H., M.G., J.D.G.), and Pathology and Laboratory Medicine (M.G., J.D.G.), Emory University School of Medicine, Atlanta, GA; and the Department of Neurology (J.E.L.), University of Massachusetts Medical School, Worcester.
Latoya ShawFrom the Center for Neurodegenerative Disease (M.E.U., W.H., M.G., J.D.G.), Department of Neurology (M.E.U., C.F., Y.L., M.P., L.S., W.H., M.G., J.D.G.), and Pathology and Laboratory Medicine (M.G., J.D.G.), Emory University School of Medicine, Atlanta, GA; and the Department of Neurology (J.E.L.), University of Massachusetts Medical School, Worcester.
John E LandersFrom the Center for Neurodegenerative Disease (M.E.U., W.H., M.G., J.D.G.), Department of Neurology (M.E.U., C.F., Y.L., M.P., L.S., W.H., M.G., J.D.G.), and Pathology and Laboratory Medicine (M.G., J.D.G.), Emory University School of Medicine, Atlanta, GA; and the Department of Neurology (J.E.L.), University of Massachusetts Medical School, Worcester.
William HuFrom the Center for Neurodegenerative Disease (M.E.U., W.H., M.G., J.D.G.), Department of Neurology (M.E.U., C.F., Y.L., M.P., L.S., W.H., M.G., J.D.G.), and Pathology and Laboratory Medicine (M.G., J.D.G.), Emory University School of Medicine, Atlanta, GA; and the Department of Neurology (J.E.L.), University of Massachusetts Medical School, Worcester.
Marla GearingFrom the Center for Neurodegenerative Disease (M.E.U., W.H., M.G., J.D.G.), Department of Neurology (M.E.U., C.F., Y.L., M.P., L.S., W.H., M.G., J.D.G.), and Pathology and Laboratory Medicine (M.G., J.D.G.), Emory University School of Medicine, Atlanta, GA; and the Department of Neurology (J.E.L.), University of Massachusetts Medical School, Worcester.
Jonathan D GlassFrom the Center for Neurodegenerative Disease (M.E.U., W.H., M.G., J.D.G.), Department of Neurology (M.E.U., C.F., Y.L., M.P., L.S., W.H., M.G., J.D.G.), and Pathology and Laboratory Medicine (M.G., J.D.G.), Emory University School of Medicine, Atlanta, GA; and the Department of Neurology (J.E.L.), University of Massachusetts Medical School, Worcester. Jglas03@emory.edu.
Emory University · US

Funding

The Emory Alzheimer's Disease CenterP50AG025688 · NIA · EMORY UNIVERSITY · PI WALKER, LARY C · 2005 to 2019
$25.7M
MEDICAL SCIENTIST TRAINING PROGRAMT32GM008169 · NIGMS · EMORY UNIVERSITY · PI GROSS, ROBERT E · 1987 to 2021
$20.3M
ENNCF - Viral Vector CoreP30NS055077 · NINDS · EMORY UNIVERSITY · PI LEVEY, ALLAN I · 2008 to 2018
$6.8M
Identification of genes causative for familial ALS gene using exome sequencingR01NS073873 · NINDS · UNIV OF MASSACHUSETTS MED SCH WORCESTER · PI LANDERS, JOHN E · 2011 to 2019
$4.6M
Phase 1b Trial of stem cells in ALSR01NS077982 · NINDS · EMORY UNIVERSITY · PI BOULIS, NICHOLAS M, FELDMAN, EVA LUCILLE · 2012 to 2015
$2.5M
NIA NIH HHS P50 AG025688NIGMS NIH HHS T32 GM008169NINDS NIH HHS P30 NS055077NINDS NIH HHS R01 NS073873NINDS NIH HHS R01 NS077982
6 · The paper itself

Abstract

objectiveWe investigated whether the C9orf72 expansion mutation in patients with amyotrophic lateral sclerosis (ALS) is associated with unique demographic and clinical features.

methodsBetween 2001 and 2015, approximately half of all patients attending the Emory ALS Clinic agreed to donate DNA for research. This research cohort of 781 patients was screened for the C9orf72 expansion, and demographic and clinical data were compared between those with and without the C9orf72 mutation. For mutation carriers without a family history of ALS, we sought further family history of dementia and other non-ALS neurodegenerative diseases in first-degree relatives.

resultsThe C9orf72 expansion was identified in 61 patients (7.8%). Compared to those without the expansion mutation, these patients did not differ in race, age, or site of onset. As expected, C9orf72 patients were more likely to have a family history of ALS (59% vs 7.9%) and to present with comorbid frontotemporal dementia (FTD) (14.8% vs 1.7%). Survival was shorter in patients with the expansion (log-rank χ(2)[1] = 45.323, p < 0.001). Further investigation in 28 patients initially categorized as having no known family history of ALS identified a family history of dementia in 16 cases; 6 of these had characteristics suggestive of FTD.

conclusionsComparing the C9orf72 ALS population to the general ALS population, there were no differences in race, age at onset, or proportion of patients with bulbar onset disease. Differences identified in patients with the C9orf72 mutation included shortened survival and an equal proportion of men and women. In addition, we found that assessing family history for dementia may identify other family members likely to be carrying the C9orf72 expansion, reduce the number of sporadic cases, and thus increase our understanding of disease penetrance.

Indexed as

DNA Repeat ExpansionMutationAmyotrophic Lateral SclerosisC9orf72 ProteinCohort StudiesComorbidityFemaleFrontotemporal DementiaGenetic Predisposition to DiseaseGenotyping TechniquesHeterozygoteHumansKaplan-Meier EstimateMaleMiddle AgedPhenotypeC9orf72 ProteinC9orf72 protein, humanProteins

Identifiers

PMID27488601
PMCPMC5027809
OpenAlexW2487331275

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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.