Evidence map›Paper›PMID 15000674›Full record

ArticleAmerican journal of mental retardation : AJMR2004

Aging in individuals with the FMR1 mutation.

S Jacquemont, F Farzin, D Hall, M Leehey, F Tassone, L Gane, L Zhang, J Grigsby, T Jardini, F Lewin and 3 more

Registry-linked trialAbstract read
In one paragraph

Article in American journal of mental retardation : AJMR, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02936531 (Mapping Functional Networks of Brain Activity), which is not on this map. Cited by 60 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
60citing papers in PubMed, 1 pooled it
7.6field-weighted citation impact, top 2% 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.

NCT02936531 unknown statusnot on this mapstarted 2016, after this paper: background citation

Mapping Functional Networks of Brain Activity (Brain Network Activation) Based on Analysis of Evoked Response Potential (ERP) Signals and Registration of Posture and Gait-related Data in FMR1 Premutation Carriers and Patients With FXTAS.

TypeobservationalSponsorSheba Medical CenterRan2016 to 2022Enrolled150ConditionsFragile X Associated Tremor-ataxia Syndrome, FXTAS
3 · Its place in the literature

Who cites it

60 citing papers in PubMed, 1 synthesis or guideline pooled it, 153 citations in OpenAlex.

  1. Pooled it
  2. Interaction of FXTAS Family History and College Degree Attainment Predicts Trajectories of Cognitive and Motor Symptoms in FMR1 Premutation Carrier Women.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2026
    Article
  3. Article
  4. Article
  5. Chronic pain, fatigue, and emotional distress in femaleFrontiers in molecular neuroscience · 2026
    Article
  6. Review
  7. Article
  8. Review
  9. Article
  10. Article
  11. Article
  12. Article
  13. Neuroimaging in Dementia.Seminars in neurology · 2017
    Review
  14. Article
  15. Review
  16. Review
  17. Review
  18. Article
  19. Review
  20. Fragile X spectrum disorders.Intractable & rare diseases research · 2014
    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

13 authors at 5 institutions in 2 countries.

S JacquemontM.I.N.D. Institute, University of California, Davis, Medical Center, Sacremento 95817, USA.
F Farzin
D Hall
M Leehey
F Tassone
L Gane
L Zhang
J Grigsby
T Jardini
F Lewin
E Berry-Kravis
P J Hagerman
R J Hagerman
University of California, Davis · USUniversity of Colorado Health · USInstitute of Molecular Medicine · INRush University Medical Center · USUniversity of California Davis Medical Center · US

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
NICHD NIH HHS R01 HD036071
6 · The paper itself

Abstract

Individuals with fragile X mental retardation 1 (FMR1) premutation (55 to 200 CGG repeats) are typically unaffected by fragile X syndrome. However, a subgroup of older males with the premutation have developed a neurological syndrome, which usually begins between 50 and 70 years and is associated with a progressive intention tremor and/or ataxia manifested by balance problems, frequent falling, and Parkinsonian symptoms, such as masked facies, intermittent resting tremor, and mild rigidity. This finding has been termed the fragile X-associated tremor/ataxia syndrome (FXTAS) and has brought focus to the aging process in individuals with the FMR1 mutation. The premutation is associated with elevated messenger RNA levels leading to the formation of intranuclear inclusions in neurons and astrocytes associated with FXTAS. This review is a summary of our experience with FXTAS in male carriers of the premutation.

Indexed as

RNA-Binding ProteinsAgedAgingBrainCognition DisordersFragile X Messenger Ribonucleoprotein 1Fragile X SyndromeGenetic CounselingHealth StatusHumansMagnetic Resonance ImagingMaleMiddle AgedNerve Tissue ProteinsPoint MutationFMR1 protein, humanFragile X Messenger Ribonucleoprotein 1Nerve Tissue ProteinsRNA-Binding Proteins

Identifiers

PMID15000674
PMCPMC3249442
OpenAlexW2081066023

What OpenQuestion holds

Textmetadata
Read underepoch 390

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.