Evidence map›Paper›PMID 28007986›Full record

ArticleBrain : a journal of neurology2017

Phospholipase A2-activating protein is associated with a novel form of leukoencephalopathy.

Tzipora C Falik Zaccai, David Savitzki, Yifat Zivony-Elboum, Thierry Vilboux, Eric C Fitts, Yishay Shoval, Limor Kalfon, Nadra Samra, Zohar Keren, Bella Gross and 17 more

Open access · bronzeAbstract read
In one paragraph

Article in Brain : a journal of neurology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
1.4field-weighted citation impact, top 17% 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

14 citing papers in PubMed, 22 citations in OpenAlex.

  1. The Phospholipase AJournal of lipid and atherosclerosis · 2026
    Review
  2. Article
  3. PLAA/UFD-3 regulates P-bodies through its intrinsic disordered domain.Proceedings of the National Academy of Sciences of the United States of America · 2025
    Article
  4. Article
  5. Allelic heterogeneity and abnormal vesicle recycling inFrontiers in molecular neuroscience · 2024
    Article
  6. Article
  7. Review
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. 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

27 authors at 12 institutions in 3 countries.

Tzipora C Falik ZaccaiInstitute of Human Genetics, Galilee Medical Center, Nahariya, Israel falikmd.genetics@gmail.com.
David SavitzkiPediatric Neurology Unit, Galilee Medical Center, Nahariya, Israel.
Yifat Zivony-ElboumInstitute of Human Genetics, Galilee Medical Center, Nahariya, Israel.
Thierry VilbouxSection on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Eric C FittsDepartment of Microbiology and Immunology, University of Texas Medical Branch, Galveston, TX, USA.
Yishay ShovalInstitute of Human Genetics, Galilee Medical Center, Nahariya, Israel.
Limor KalfonInstitute of Human Genetics, Galilee Medical Center, Nahariya, Israel.
Nadra SamraInstitute of Human Genetics, Galilee Medical Center, Nahariya, Israel.
Zohar KerenInstitute of Human Genetics, Galilee Medical Center, Nahariya, Israel.
Bella GrossFaculty of Medicine in the Galilee, Bar Ilan University, Safed, Israel.
Natalia ChasnykInstitute of Human Genetics, Galilee Medical Center, Nahariya, Israel.
Rachel StraussbergPediatric Neurology Unit, Schneider Children's Medical Center, Petach Tikva, Israel.
James C MullikinComparative Genomics Analysis Unit, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Jamie K TeerDepartment of Biostatistics and Bioinformatics, H. Lee Moffitt Cancer Center, Tampa, FL, USA.
Dan GeigerComputer Sciences, Technion - Israel Institute of Technology, Haifa, Israel.
Daniel KornitzerFaculty of Medicine, Technion - I.I.T. and Rappaport Institute for Biomedical Research, Haifa, Israel.
Ora Bitterman-DeutschFaculty of Medicine in the Galilee, Bar Ilan University, Safed, Israel.
Abraham O SamsonFaculty of Medicine in the Galilee, Bar Ilan University, Safed, Israel.
Maki WakamiyaTransgenic Mouse Core Facility, Institute for Translational Sciences and Animal Resource Center, University of Texas Medical Branch, Galveston, TX, USA.
Johnny W PetersonDepartment of Microbiology and Immunology, University of Texas Medical Branch, Galveston, TX, USA.
Michelle L KirtleyDepartment of Microbiology and Immunology, University of Texas Medical Branch, Galveston, TX, USA.
Iryna V PinchukDepartment of Internal Medicine, University of Texas Medical Branch, Galveston, TX, USA.
Wallace B BazeDepartment of Veterinary Sciences, MD Anderson Cancer Center, Bastrop, TX, USA.
William A GahlSection on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Robert KletaUniversity College, Royal Free Hospital / UCL Medical School, London, UK.
Yair AniksterSackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
Ashok K ChopraDepartment of Microbiology and Immunology, University of Texas Medical Branch, Galveston, TX, USA.
Western Galilee Hospital · ILThe University of Texas Medical Branch at Galveston · USNational Institutes of Health · USBar-Ilan University · ILEdmond and Lily Safra Children's Hospital · ILInova Health System · USMoffitt Cancer Center · USRappaport Family Institute for Research in the Medical Sciences · ILTechnion – Israel Institute of Technology · ILTel Aviv University · ILThe University of Texas MD Anderson Cancer Center · USUniversity College London · GB

Funding

Inter- and Intra-Species Comparative SequencingZIBHG000196 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI THOMAS, JAMES · 2009 to 2025
$177.6M
TRANSLATIONAL RESEARCHP30CA076292 · NCI · UNIVERSITY OF SOUTH FLORIDA · PI KENNETH Lynn WRIGHT · 1998 to 2026
$93.5M
Human Biochemical GeneticsZIAHG000215 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI GAHL, WILLIAM · 2009 to 2025
$72.6M
UTMB Clinical and Translational Science AwardUL1TR001439 · NCATS · UNIVERSITY OF TEXAS MED BR GALVESTON · PI URBAN, RANDALL J · 2015 to 2024
$40.0M
Comparative Genomics Unit ResearchZIAHG200330 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI MULLIKIN, JAMES C · 2009 to 2022
$17.9M
UTMB Clinical and Translational Science AwardUL1TR000071 · NCATS · UNIVERSITY OF TEXAS MED BR GALVESTON · PI BRASIER, ALLAN R. · 2012 to 2014
$14.4M
NCATS NIH HHS UL1 TR000071NCATS NIH HHS UL1 TR001439NCI NIH HHS P30 CA076292
6 · The paper itself

Abstract

Leukoencephalopathies are a group of white matter disorders related to abnormal formation, maintenance, and turnover of myelin in the central nervous system. These disorders of the brain are categorized according to neuroradiological and pathophysiological criteria. Herein, we have identified a unique form of leukoencephalopathy in seven patients presenting at ages 2 to 4 months with progressive microcephaly, spastic quadriparesis, and global developmental delay. Clinical, metabolic, and imaging characterization of seven patients followed by homozygosity mapping and linkage analysis were performed. Next generation sequencing, bioinformatics, and segregation analyses followed, to determine a loss of function sequence variation in the phospholipase A

Indexed as

AdolescentAnimalsBrainChildConsanguinityDinoprostoneEmbryo, MammalianFamily HealthFemaleFibroblastsGene Expression RegulationHumansLeukoencephalopathiesLungMaleMiceDinoprostoneNF-kappa Bphospholipase A2-activating proteinPhospholipases A2Proteinsautosomal recessivecomplex phospholipid defectsphospholipase A2-activating protein (PLAA)progressive leukoencephalopathystartle response

Identifiers

PMID28007986
PMCPMC5841054
OpenAlexW2566835621

What OpenQuestion holds

Textmetadata
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.