Evidence map›Paper›PMID 28692196›Full record

ArticleClinical genetics2018

Genotype-phenotype study in patients with valosin-containing protein mutations associated with multisystem proteinopathy.

E Al-Obeidi, S Al-Tahan, A Surampalli, N Goyal, A K Wang, A Hermann, M Omizo, C Smith, T Mozaffar, V Kimonis

Registry-linked trialOpen access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Clinical genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01353430 (Characterization of Familial Myopathy and Paget Disease of Bone), which is not on this map. Cited by 84 papers.

0numbers the graph read from it
0cells of the map it votes in
84citing papers in PubMed
6.3field-weighted citation impact, top 3% 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.

NCT01353430 recruitingnot on this map

Characterization of Familial Myopathy and Paget Disease of Bone

TypeobservationalSponsorUniversity of California, IrvineRan2007 to 2030Enrolled50ConditionsInclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia, Paget Disease of Bone, Frontotemporal Dementia, Myopathy
3 · Its place in the literature

Who cites it

84 citing papers in PubMed, 150 citations in OpenAlex.

  1. Article
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  4. Article
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  8. In-vivo evidence of synucleinopathy in parkinsonism due to VCP mutation.Journal of neural transmission (Vienna, Austria : 1996) · 2026
    Article
  9. Review
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  11. Review
  12. Article
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  14. Review
  15. Clinicopathological characterization of vacuolar tauopathy associated with VCP D395G.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025
    Article
  16. Article
  17. Review
  18. Review
  19. Article
  20. Article

24 more citing papers are in PubMed but not listed here.

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

10 authors at 4 institutions in 2 countries.

E Al-ObeidiDivision of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, Orange, California.
S Al-TahanDivision of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, Orange, California.
A SurampalliDivision of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, Orange, California.
N GoyalNeuromuscular Program, Department of Neurology, University of California, Irvine, Orange, California.
A K WangNeuromuscular Program, Department of Neurology, University of California, Irvine, Orange, California.
A HermannDepartment of Neurology, Technische Universität Dresden, and German Center for Neurodegenerative Diseases (DZNE), Research Side Dresden, 01307 Dresden, Germany.
M OmizoDeschutes Osteoporosis Center, Bend, Oregon.
C SmithDepartment of Neurology, University of Kentucky Medical School, Lexington, Kentucky.
T MozaffarNeuromuscular Program, Department of Neurology, University of California, Irvine, Orange, California.
V KimonisDivision of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, Orange, California.ORCID http://orcid.org/0000-0003-1567-4449
University of California, Irvine · USBone Health and Osteoporosis Foundation · USGerman Center for Neurodegenerative Diseases · DEUniversity of Kentucky · US

Funding

University of California Health Participation in the National COVID Cohort Collaborative (N3C)UL1TR001414 · NCATS · UNIVERSITY OF CALIFORNIA-IRVINE · PI COOPER, DAN M, VILAIN, ERIC J. · 2015 to 2023
$35.1M
Genetic basis of myopathy with Paget disease of boneR01AR050236 · NIAMS · UNIVERSITY OF CALIFORNIA-IRVINE · PI KIMONIS, VIRGINIA EUNICE · 2004 to 2008
$1.3M
Translational Studies in VCP Inclusion Body Myopathy with Paget Disease of BoneR56AR050236 · NIAMS · UNIVERSITY OF CALIFORNIA-IRVINE · PI KIMONIS, VIRGINIA EUNICE · 2009 to 2009
$437k
NCATS NIH HHS UL1 TR001414NIAMS NIH HHS R01 AR050236NIAMS NIH HHS R56 AR050236
6 · The paper itself

Abstract

Mutations in valosin-containing protein (VCP), an ATPase involved in protein degradation and autophagy, cause VCP disease, a progressive autosomal dominant adult onset multisystem proteinopathy. The goal of this study is to examine if phenotypic differences in this disorder could be explained by the specific gene mutations. We therefore studied 231 individuals (118 males and 113 females) from 36 families carrying 15 different VCP mutations. We analyzed the correlation between the different mutations and prevalence, age of onset and severity of myopathy, Paget's disease of bone (PDB), and frontotemporal dementia (FTD), and other comorbidities. Myopathy, PDB and FTD was present in 90%, 42% and 30% of the patients, respectively, beginning at an average age of 43, 41, and 56 years, respectively. Approximately 9% of patients with VCP mutations had an amyotrophic lateral sclerosis (ALS) phenotype, 4% had been diagnosed with Parkinson's disease (PD), and 2% had been diagnosed with Alzheimer's disease (AD). Large interfamilial and intrafamilial variation made establishing correlations difficult. We did not find a correlation between the mutation type and the incidence of any of the clinical features associated with VCP disease, except for the absence of PDB with the R159C mutation in our cohort and R159C having a later age of onset of myopathy compared with other molecular subtypes.

Indexed as

MutationAdultAgedAge of OnsetAlzheimer DiseaseAmyotrophic Lateral SclerosisCohort StudiesFamily HealthFemaleGenetic Predisposition to DiseaseGenotypeHumansMaleMiddle AgedParkinson DiseasePhenotypeValosin Containing Proteingenotype-phenotypeIBMPFDmultisystem proteinopathy (MSP)valosin-containing proteinVCP

Identifiers

PMID28692196
PMCPMC5739971
OpenAlexW2736051823

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Registered trials

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.