Evidence map›Paper›PMID 26222316›Full record

Trial reportPloS one2015

Positron Emission Tomography (PET) Quantification of GABAA Receptors in the Brain of Fragile X Patients.

Charlotte D'Hulst, Inge Heulens, Nathalie Van der Aa, Karolien Goffin, Michel Koole, Kathleen Porke, Marc Van De Velde, Liesbeth Rooms, Wim Van Paesschen, Hilde Van Esch and 2 more

Abstract readClinical Trial
In one paragraph

Trial report in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.

0numbers the graph read from it
0cells of the map it votes in
34citing papers in PubMed
–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

34 citing papers in PubMed.

  1. Altered Auditory Maturation in Fragile X Syndrome and Its Involvement in Audiogenic Seizure Susceptibility.Autism research : official journal of the International Society for Autism Research · 2026
    Article
  2. Review
  3. Review
  4. Review
  5. Resting-State Functional MRI and PET Imaging as Noninvasive Tools to Study (Ab)Normal Neurodevelopment in Humans and Rodents.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2023
    Review
  6. Hyperexcitability in the Olfactory Bulb and Impaired Fine Odor Discrimination in theThe Journal of neuroscience : the official journal of the Society for Neuroscience · 2023
    Article
  7. Article
  8. Review
  9. Targeted Treatments for Fragile X Syndrome.Advances in neurobiology · 2023
    Article
  10. Article
  11. Decreased rates of cerebral protein synthesis in conscious young adults with fragile X syndrome demonstrated by L-[1-Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism · 2022
    Article
  12. Article
  13. FMRP regulates GABACell reports · 2022
    Article
  14. Article
  15. Article
  16. Review
  17. Channelopathies in fragile X syndrome.Nature reviews. Neuroscience · 2021
    Review
  18. Article
  19. GABAFrontiers in psychiatry · 2021
    Article
  20. Hyperexcitability and Homeostasis in Fragile X Syndrome.Frontiers in molecular neuroscience · 2021
    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

12 authors.

Charlotte D'HulstDepartment of Medical Genetics, Antwerp University, Antwerp, Belgium.
Inge HeulensDepartment of Medical Genetics, Antwerp University, Antwerp, Belgium.
Nathalie Van der AaDepartment of Medical Genetics, Antwerp University, Antwerp, Belgium; Department of Medical Genetics, University Hospital Antwerp, Antwerp, Belgium.
Karolien GoffinDivision of Nuclear Medicine and Molecular Imaging, University Hospitals Leuven, Leuven, Belgium.
Michel KooleDivision of Nuclear Medicine and Molecular Imaging, University Hospitals Leuven, Leuven, Belgium.
Kathleen PorkeDepartment of Neuropsychology, University Hospitals Leuven, Leuven, Belgium.
Marc Van De VeldeDepartment of Anaesthesiology, University Hospitals Leuven, Leuven, Belgium.
Liesbeth RoomsDepartment of Medical Genetics, Antwerp University, Antwerp, Belgium.
Wim Van PaesschenDepartment of Neurology, University Hospitals Leuven, Leuven, Belgium.
Hilde Van EschCenter for Human Genetics, University Hospitals, Leuven and KULeuven, Leuven, Belgium.
Koen Van LaereDivision of Nuclear Medicine and Molecular Imaging, University Hospitals Leuven, Leuven, Belgium.
R Frank KooyDepartment of Medical Genetics, Antwerp University, Antwerp, Belgium.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Over the last several years, evidence has accumulated that the GABAA receptor is compromised in animal models for fragile X syndrome (FXS), a common hereditary form of intellectual disability. In mouse and fly models, agonists of the GABAA receptor were able to rescue specific consequences of the fragile X mutation. Here, we imaged and quantified GABAA receptors in vivo in brain of fragile X patients using Positron Emission Topography (PET) and [11C]flumazenil, a known high-affinity and specific ligand for the benzodiazepine site of GABAA receptors. We measured regional GABAA receptor availability in 10 fragile X patients and 10 control subjects. We found a significant reduction of on average 10% in GABAA receptor binding potential throughout the brain in fragile X patients. In the thalamus, the brain region showing the largest difference, the GABAA receptor availability was even reduced with 17%. This is one of the first reports of a PET study of human fragile X brain and directly demonstrates that the GABAA receptor availability is reduced in fragile X patients. The study reinforces previous hypotheses that the GABAA receptor is a potential target for rational pharmacological treatment of fragile X syndrome.

Indexed as

BrainFragile X SyndromePositron-Emission TomographyAdolescentAdultAnimalsFemaleFlumazenilHumansMaleMiceMiddle AgedRadiographyReceptors, GABA-AFlumazenilReceptors, GABA-A

Identifiers

PMID26222316
PMCPMC4519313

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Registered trials

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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.