Evidence map›Paper›PMID 25642984›Full record

ReviewJournal of neurodevelopmental disorders2014

Emerging topics in FXTAS.

Deborah A Hall, Rachael C Birch, Mathieu Anheim, Aia E Jønch, Elizabeth Pintado, Joanne O'Keefe, Julian N Trollor, Glenn T Stebbins, Randi J Hagerman, Stanley Fahn and 2 more

Erratum issuedAbstract readReview
In one paragraph

Review in Journal of neurodevelopmental disorders, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 67 papers.

0numbers the graph read from it
0cells of the map it votes in
67citing 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

67 citing papers in PubMed.

  1. Article
  2. A novelJournal of neuromuscular diseases · 2026
    Article
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  9. Article
  10. Long-read sequencing reveals extensivebioRxiv : the preprint server for biology · 2025
    Article
  11. Article
  12. Article
  13. Article
  14. Premutation Females with preFXTAS.International journal of molecular sciences · 2025
    Article
  15. Article
  16. Article
  17. Article
  18. Article
  19. Article
  20. Article

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

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

12 authors.

Deborah A HallDepartment of Neurological Sciences, Rush University, Chicago, IL, USA.
Rachael C BirchDepartment of Developmental Disability Neuropsychiatry, School of Psychiatry, University of New South Wales, Sydney, Australia.
Mathieu AnheimDépartement de Neurologie, Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, 67098 Strasbourg, Cedex, France ; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, 67404 Illkirch, France ; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.
Aia E JønchDepartment of clinical Genetics, Kennedy Center, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Elizabeth PintadoDepartment of Medical Biochemistry and Molecular Biology, University of Seville, Sevilla, Spain.
Joanne O'KeefeDepartment of Anatomy & Cell Biology, Rush University, Chicago, IL, USA.
Julian N TrollorDepartment of Developmental Disability Neuropsychiatry, School of Psychiatry, University of New South Wales, Sydney, Australia ; Centre for Healthy Brain Ageing, University of New South Wales, Sydney, Australia.
Glenn T StebbinsDepartment of Neurological Sciences, Rush University, Chicago, IL, USA.
Randi J HagermanDepartment of Pediatrics & M.I.N.D. Institute, University of California at Davis Medical Center, Sacramento, CA, USA.
Stanley FahnDepartment of Neurology, Columbia University, New York, NY, USA.
Elizabeth Berry-KravisDepartment of Neurological Sciences, Rush University, Chicago, IL, USA ; Departments of Pediatrics and Biochemistry, Rush University, Chicago, IL, USA.
Maureen A LeeheyDepartment of Neurology, University of Colorado at Denver, Denver, CO, USA.

Funding

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
Adult Neurological Phenotypes of Fragile X Gray Zone ExpansionR01NS082416 · NINDS · RUSH UNIVERSITY MEDICAL CENTER · PI HALL, DEBORAH A · 2013 to 2016
$1.2M
NIA NIH HHS RL1 AG032115NICHD NIH HHS R01 HD036071NINDS NIH HHS R01 NS082416
6 · The paper itself

Abstract

This paper summarizes key emerging issues in fragile X-associated tremor/ataxia syndrome (FXTAS) as presented at the First International Conference on the FMR1 Premutation: Basic Mechanisms & Clinical Involvement in 2013.

Indexed as

AtaxiaFMR1Fragile XFXTASPremutationTremor

Identifiers

PMID25642984
PMCPMC4141265

What OpenQuestion holds

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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.