Evidence map›Paper›PMID 22009360›Full record

ReviewResults and problems in cell differentiation2012

Fragile X syndrome and targeted treatment trials.

Randi Hagerman, Julie Lauterborn, Jacky Au, Elizabeth Berry-Kravis

Open access · greenAbstract readReview
In one paragraph

Review in Results and problems in cell differentiation, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 62 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
62citing papers in PubMed, 2 pooled it
58.5field-weighted citation impact, top 1% 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

62 citing papers in PubMed, 2 syntheses or guidelines pooled it, 105 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Trial
  4. Trial
  5. Behavioral Phenotype Associations With Resting State EEG Signal Complexity and Power Spectral Density in Fragile X Syndrome.Autism research : official journal of the International Society for Autism Research · 2026
    Article
  6. Article
  7. Article
  8. Specific EEG resting state biomarkers in FXS and ASD.Journal of neurodevelopmental disorders · 2024
    Article
  9. Review
  10. Article
  11. Review
  12. Review
  13. ReducedFrontiers in cell and developmental biology · 2022
    Article
  14. TestingFrontiers in molecular neuroscience · 2021
    Article
  15. Article
  16. Article
  17. Genetic mutations in CaGenes, brain, and behavior · 2019
    Article
  18. Article
  19. FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts.Genetics in medicine : official journal of the American College of Medical Genetics · 2018
    Article
  20. Article

2 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

4 authors at 3 institutions in 1 country.

Randi HagermanDepartment of Pediatrics, University of California, Sacramento, CA, USA. randi.hagerman@ucdmc.ucdavis.edu
Julie Lauterborn
Jacky Au
Elizabeth Berry-Kravis
University of California Davis Medical Center · USRush University Medical Center · USUniversity of California, Irvine · US

Funding

Restoring FMRP Phenotypes Frpm Temporal Regional and Splice- Isoforms VarationsP30HD002274 · NICHD · UNIVERSITY OF WASHINGTON · PI GURALNICK, MICHAEL J · 1985 to 2013
$33.6M
UC DAVIS CLINICAL AND TRANSLATIONAL SCIENCE CENTER: BPCAUL1RR024146 · NCRR · UNIVERSITY OF CALIFORNIA AT DAVIS · PI BERGLUND, LARS F · 2006 to 2011
$27.0M
GENOTYPE/PHENOTYPE RELATIONSHIPS IN FRAGILE X FAMILIESR01HD036071 · NICHD · UNIVERSITY OF CALIFORNIA DAVIS · PI PAUL J HAGERMAN, RANDI J. HAGERMAN · 1998 to 2026
$13.8M
Characterization and Treatment of CNS Abnormalities in Premutation Carriers (4 ofRL1AG032115 · NIA · UNIVERSITY OF CALIFORNIA AT DAVIS · PI HAGERMAN, RANDI J. · 2007 to 2011
$5.8M
Development of targeted therapeutic agents for the treatment of FXTAS (2 of 6)RL1AG032119 · NIA · UNIVERSITY OF CALIFORNIA AT DAVIS · PI HAGERMAN, PAUL J · 2007 to 2011
$4.1M
Neuro Therapeutics Research Institute (1 of 6)UL1DE019583 · NIDCR · UNIVERSITY OF CALIFORNIA AT DAVIS · PI HAGERMAN, PAUL J · 2008 to 2011
$3.0M
Fragile X and Synaptic PlasticityR01MH082042 · NIMH · UNIVERSITY OF CALIFORNIA-IRVINE · PI GALL, CHRISTINE M, LAUTERBORN, JULIE C · 2009 to 2012
$1.5M
Interdisciplinary Training Program in Neurotherapeutics (6 of 6)TL1DA024854 · NIDA · UNIVERSITY OF CALIFORNIA AT DAVIS · PI CARTER, CAMERON S. · 2007 to 2011
$835k
NCBDD CDC HHS 90DD05969NCRR NIH HHS UL1 RR024146NCRR NIH HHS UL1RR024146NIA NIH HHS AG032115NIA NIH HHS AG032119NIA NIH HHS RL1 AG032115NIA NIH HHS RL1 AG032119NICHD NIH HHS HD02274NICHD NIH HHS HD036071NICHD NIH HHS P30 HD002274NICHD NIH HHS R01 HD036071NIDA NIH HHS DA024854NIDA NIH HHS TL1 DA024854NIDCR NIH HHS DE019583NIDCR NIH HHS UL1 DE019583NIMH NIH HHS MH082042NIMH NIH HHS R01 MH082042
6 · The paper itself

Abstract

Work in recent years has revealed an abundance of possible new treatment targets for fragile X syndrome (FXS). The use of animal models, including the fragile X knockout mouse which manifests a phenotype very similar to FXS in humans, has resulted in great strides in this direction of research. The lack of Fragile X Mental Retardation Protein (FMRP) in FXS causes dysregulation and usually overexpression of a number of its target genes, which can cause imbalances of neurotransmission and deficits in synaptic plasticity. The use of metabotropic glutamate receptor (mGluR) blockers and gamma amino-butyric acid (GABA) agonists have been shown to be efficacious in reversing cellular and behavioral phenotypes, and restoring proper brain connectivity in the mouse and fly models. Proposed new pharmacological treatments and educational interventions are discussed in this chapter. In combination, these various targeted treatments show promising preliminary results in mitigating or even reversing the neurobiological abnormalities caused by loss of FMRP, with possible translational applications to other neurodevelopmental disorders including autism.

Indexed as

AnimalsAnti-Bacterial AgentsAntioxidantsBaclofenBrain-Derived Neurotrophic FactorCentral Nervous System StimulantsClinical Trials as TopicDendritic SpinesDonepezilDopamineEnzyme InhibitorsFragile X Messenger Ribonucleoprotein 1Fragile X SyndromeHumansIndansLithium CompoundsAnti-Bacterial AgentsAntioxidantsarbaclofen placarbilBaclofenBrain-Derived Neurotrophic FactorCentral Nervous System StimulantsDonepezilDopamineEnzyme InhibitorsFragile X Messenger Ribonucleoprotein 1IndansLithium CompoundsMelatoninMinocyclineNootropic AgentsPiperidinesReceptor, Metabotropic Glutamate 5Receptors, GABAReceptors, Metabotropic GlutamateVitamin E

Identifiers

PMID22009360
PMCPMC4114775
OpenAlexW2172051343

What OpenQuestion holds

Textmetadata
LicenceTDM
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.