Evidence map›Paper›PMID 41638369›Full record

ArticleNeurobiology of disease2026

The apolipoprotein gene: a modulating role on brain volume and cognitive function in carriers of the fragile X premutation.

Poonnada Jiraanont, Jun Yi Wang, Blythe Durbin-Johnson, Ye Hyun Hwang, David Hessl, Susan M Rivera, Randi J Hagerman, Flora Tassone

Erratum issuedAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurobiology of disease, 2026. 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 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. Cognitive-behavioral phenotypes inFrontiers in molecular neuroscience · 2026
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

8 authors.

Poonnada JiraanontDivision of Molecular and Cellular Medicine, Faculty of Medicine, King Mongkut's Institute of Technology Ladkrabang, Bangkok, Thailand.
Jun Yi WangCenter for Mind and Brain, University of California Davis, Davis, CA, USA.
Blythe Durbin-JohnsonDivision of Biostatistics, University of California Davis, School of Medicine, Davis, CA, USA.
Ye Hyun HwangDepartment of Biochemistry and Molecular Medicine, School of Medicine, University of California Davis, Sacramento, CA, USA.
David HesslMIND Institute, University of California Davis Health, Sacramento, CA, USA; Department of Psychiatry and Behavioral Sciences, University of California Davis, School of Medicine, Sacramento, CA, USA.
Susan M RiveraMIND Institute, University of California Davis Health, Sacramento, CA, USA; Center for Mind and Brain, University of California Davis, Davis, CA, USA; Department of Psychology, University of Maryland, College Park, MD, USA.
Randi J HagermanDepartment of Pediatrics, University of California Davis, School of Medicine, Sacramento, CA, USA; MIND Institute, University of California Davis Health, Sacramento, CA, USA.
Flora TassoneDepartment of Biochemistry and Molecular Medicine, School of Medicine, University of California Davis, Sacramento, CA, USA; MIND Institute, University of California Davis Health, Sacramento, CA, USA. Electronic address: ftassone@health.ucdavis.edu.

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
Research Project: Pathologic Significance of Maternal AutoantibodiesP50HD103526 · NICHD · UNIVERSITY OF CALIFORNIA AT DAVIS · PI LEONARD J. ABBEDUTO, Melissa Dawn Bauman · 2020 to 2026
$9.7M
Trajectories and Markers of Neurodegeneration in Fragile X Premutation CarriersR01NS110100 · NINDS · UNIVERSITY OF CALIFORNIA AT DAVIS · PI DAVID R HESSL, Susan M Rivera · 2018 to 2026
$5.4M
NICHD NIH HHS P50 HD103526NICHD NIH HHS R01 HD036071NINDS NIH HHS R01 NS110100
6 · The paper itself

Abstract

Fragile X-associated tremor/ataxia syndrome (FXTAS), caused by the FMR1 premutation allele, is associated with brain degeneration, yet the mechanisms behind this neurodegeneration still need to be elucidated. Apoε polymorphism has been widely implicated in brain aging in cognitively healthy individuals and brain deterioration in Alzheimer's disease. This study aimed to examine the interaction of Apoε genotypes, FXTAS clinical symptoms, FMR1 molecular measures, and age, towards brain pathophysiology and cognitive functions. This longitudinal study includes MRI data collected from 205 male premutation carriers with and without FXTAS clinical symptoms and compared to 86 healthy male controls aged 40-85 years. The investigation includes FXTAS-related brain volumes, IQ, self-control behaviors, FMR1 molecular measures, and Apoε genotypes. In carriers with FXTAS, the presence of the Apoε2 allele showed a possible association with more favorable neuroimaging markers, such as reduced white matter hyperintensities, and lower incidence of the middle cerebellar peduncle sign, patterns that were not observed in carriers without FXTAS. Specifically, the presence of Apoε2 allele exhibited a potential protective effect on brain degeneration, and cognitive functions among FXTAS patients; on the contrary, the Apoε4 allele was associated with a worsening of brain volume and brain degeneration in carriers with no FXTAS symptoms. The identification of Apoε genotypes in FMR1 premutation carriers before any clinical symptoms of FXTAS are observed may improve symptomatic management leading to better outcomes for these individuals.

Indexed as

Apolipoproteins EAtaxiaBrainCognitionFragile X Messenger Ribonucleoprotein 1Fragile X SyndromeTremorAdultAgedAged, 80 and overGenotypeHeterozygoteHumansLongitudinal StudiesMagnetic Resonance ImagingMaleApolipoproteins EFMR1 protein, humanFragile X Messenger Ribonucleoprotein 1ApoεBrain volumeFXTASMotor functionPremutation

Identifiers

PMID41638369
PMCPMC13325199

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.