Evidence map›Paper›PMID 39113493›Full record

ArticleThe Journal of neuropsychiatry and clinical neurosciences2025

Psychiatric Manifestations in Early to Middle Stages of Fragile X-Associated Tremor-Ataxia Syndrome (FXTAS).

Mei Hung Chi, James A Bourgeois, Ellery Santos, Kyoungmi Kim, Matt Dominic Ponzini, Guadalupe Mendoza, Andrea Schneider, David Hessl, Flora Tassone, Randi J Hagerman

Abstract read
In one paragraph

Article in The Journal of neuropsychiatry and clinical neurosciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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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

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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

4 citing papers in PubMed.

  1. Review
  2. Article
  3. Long-read sequencing reveals extensivebioRxiv : the preprint server for biology · 2025
    Article
  4. Depression Symptom Trajectories in Mothers With the FMR1 Premutation Vary by CGG Repeat Length: A Longitudinal Study of 73 Women Spanning 20-75 Years of Age.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2025
    Article
4 · The record

Corrections and comments

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5 · Who and what money

Authors and funding

10 authors.

Mei Hung ChiMedical Investigation of Neurodevelopmental Disorders Institute, University of California Davis Health, Sacramento (Chi, Santos, Kim, Ponzini, Schneider, Hessl, Tassone, Hagerman); Department of Psychiatry, National Cheng Kung University Hospital, Tainan, Taiwan (Chi); Departments of Psychiatry and Behavioral Sciences (Bourgeois, Hessl), Pediatrics (Santos, Schneider, Hagerman), Public Health Sciences (Kim, Ponzini), and Biochemistry and Molecular Medicine (Mendoza, Tassone), University of California, Davis School of Medicine, Sacramento.
James A BourgeoisMedical Investigation of Neurodevelopmental Disorders Institute, University of California Davis Health, Sacramento (Chi, Santos, Kim, Ponzini, Schneider, Hessl, Tassone, Hagerman); Department of Psychiatry, National Cheng Kung University Hospital, Tainan, Taiwan (Chi); Departments of Psychiatry and Behavioral Sciences (Bourgeois, Hessl), Pediatrics (Santos, Schneider, Hagerman), Public Health Sciences (Kim, Ponzini), and Biochemistry and Molecular Medicine (Mendoza, Tassone), University of California, Davis School of Medicine, Sacramento.
Ellery SantosMedical Investigation of Neurodevelopmental Disorders Institute, University of California Davis Health, Sacramento (Chi, Santos, Kim, Ponzini, Schneider, Hessl, Tassone, Hagerman); Department of Psychiatry, National Cheng Kung University Hospital, Tainan, Taiwan (Chi); Departments of Psychiatry and Behavioral Sciences (Bourgeois, Hessl), Pediatrics (Santos, Schneider, Hagerman), Public Health Sciences (Kim, Ponzini), and Biochemistry and Molecular Medicine (Mendoza, Tassone), University of California, Davis School of Medicine, Sacramento.
Kyoungmi KimMedical Investigation of Neurodevelopmental Disorders Institute, University of California Davis Health, Sacramento (Chi, Santos, Kim, Ponzini, Schneider, Hessl, Tassone, Hagerman); Department of Psychiatry, National Cheng Kung University Hospital, Tainan, Taiwan (Chi); Departments of Psychiatry and Behavioral Sciences (Bourgeois, Hessl), Pediatrics (Santos, Schneider, Hagerman), Public Health Sciences (Kim, Ponzini), and Biochemistry and Molecular Medicine (Mendoza, Tassone), University of California, Davis School of Medicine, Sacramento.
Matt Dominic PonziniMedical Investigation of Neurodevelopmental Disorders Institute, University of California Davis Health, Sacramento (Chi, Santos, Kim, Ponzini, Schneider, Hessl, Tassone, Hagerman); Department of Psychiatry, National Cheng Kung University Hospital, Tainan, Taiwan (Chi); Departments of Psychiatry and Behavioral Sciences (Bourgeois, Hessl), Pediatrics (Santos, Schneider, Hagerman), Public Health Sciences (Kim, Ponzini), and Biochemistry and Molecular Medicine (Mendoza, Tassone), University of California, Davis School of Medicine, Sacramento.
Guadalupe MendozaMedical Investigation of Neurodevelopmental Disorders Institute, University of California Davis Health, Sacramento (Chi, Santos, Kim, Ponzini, Schneider, Hessl, Tassone, Hagerman); Department of Psychiatry, National Cheng Kung University Hospital, Tainan, Taiwan (Chi); Departments of Psychiatry and Behavioral Sciences (Bourgeois, Hessl), Pediatrics (Santos, Schneider, Hagerman), Public Health Sciences (Kim, Ponzini), and Biochemistry and Molecular Medicine (Mendoza, Tassone), University of California, Davis School of Medicine, Sacramento.
Andrea SchneiderMedical Investigation of Neurodevelopmental Disorders Institute, University of California Davis Health, Sacramento (Chi, Santos, Kim, Ponzini, Schneider, Hessl, Tassone, Hagerman); Department of Psychiatry, National Cheng Kung University Hospital, Tainan, Taiwan (Chi); Departments of Psychiatry and Behavioral Sciences (Bourgeois, Hessl), Pediatrics (Santos, Schneider, Hagerman), Public Health Sciences (Kim, Ponzini), and Biochemistry and Molecular Medicine (Mendoza, Tassone), University of California, Davis School of Medicine, Sacramento.
David HesslMedical Investigation of Neurodevelopmental Disorders Institute, University of California Davis Health, Sacramento (Chi, Santos, Kim, Ponzini, Schneider, Hessl, Tassone, Hagerman); Department of Psychiatry, National Cheng Kung University Hospital, Tainan, Taiwan (Chi); Departments of Psychiatry and Behavioral Sciences (Bourgeois, Hessl), Pediatrics (Santos, Schneider, Hagerman), Public Health Sciences (Kim, Ponzini), and Biochemistry and Molecular Medicine (Mendoza, Tassone), University of California, Davis School of Medicine, Sacramento.
Flora TassoneMedical Investigation of Neurodevelopmental Disorders Institute, University of California Davis Health, Sacramento (Chi, Santos, Kim, Ponzini, Schneider, Hessl, Tassone, Hagerman); Department of Psychiatry, National Cheng Kung University Hospital, Tainan, Taiwan (Chi); Departments of Psychiatry and Behavioral Sciences (Bourgeois, Hessl), Pediatrics (Santos, Schneider, Hagerman), Public Health Sciences (Kim, Ponzini), and Biochemistry and Molecular Medicine (Mendoza, Tassone), University of California, Davis School of Medicine, Sacramento.
Randi J HagermanMedical Investigation of Neurodevelopmental Disorders Institute, University of California Davis Health, Sacramento (Chi, Santos, Kim, Ponzini, Schneider, Hessl, Tassone, Hagerman); Department of Psychiatry, National Cheng Kung University Hospital, Tainan, Taiwan (Chi); Departments of Psychiatry and Behavioral Sciences (Bourgeois, Hessl), Pediatrics (Santos, Schneider, Hagerman), Public Health Sciences (Kim, Ponzini), and Biochemistry and Molecular Medicine (Mendoza, Tassone), University of California, Davis School of Medicine, Sacramento.

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 JUDY A. VAN DE WATER · 2020 to 2026
$9.7M
Trajectories and Markers of Neurodegeneration in Fragile X Premutation CarriersR01MH078041 · NIMH · UNIVERSITY OF CALIFORNIA AT DAVIS · PI HESSL, DAVID R, RIVERA, SUSAN M · 2007 to 2017
$5.4M
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 HD036071NIMH NIH HHS R01 MH078041NINDS NIH HHS R01 NS110100
6 · The paper itself

Abstract

objectiveThe purpose of the present study was to assess the psychiatric manifestations of early to middle stages of fragile X-associated tremor-ataxia syndrome (FXTAS) and their relationship with executive function and

methodsCross-sectional data from 100 participants (62 men, 38 women; mean±SD age=67.11±7.90 years) with FXTAS stage 1, 2, or 3 were analyzed, including demographic information, cognitive measures, psychiatric assessments (Symptom Checklist-90-Revised and Behavioral Dyscontrol Scale-II [BDS-II]), and CGG repeat number.

resultsParticipants with FXTAS stage 3 exhibited significantly worse psychiatric outcomes compared with participants with either stage 1 or 2, with distinct gender-related differences. Men showed differences in anxiety and hostility between stage 3 and combined stages 1 and 2, whereas women exhibited differences in anxiety, depression, interpersonal sensitivity, obsessive-compulsive symptoms, and somatization, as well as in the Global Severity Index, the Positive Symptom Distress Index, and the Positive Symptom Total. Among male participants, negative correlations were observed between BDS-II total scores and obsessive-compulsive symptoms, as well as between anxiety and CGG repeat number.

conclusionsThese findings suggest that even at early FXTAS stages, patients have significant cognitive and other psychiatric symptoms, with notable gender-specific differences. This study underscores the clinical and prognostic relevance of comorbid psychiatric conditions in FXTAS, highlighting the need for early intervention and targeted support for individuals with relatively mild motor deficits.

Indexed as

AtaxiaFragile X SyndromeMental DisordersTremorAgedCross-Sectional StudiesExecutive FunctionFemaleFragile X Messenger Ribonucleoprotein 1HumansMaleMiddle AgedPsychiatric Status Rating ScalesSeverity of Illness IndexFMR1 protein, humanFragile X Messenger Ribonucleoprotein 1CGG RepeatsExecutive FunctionFMR1Fragile X-Associated Tremor-Ataxia SyndromeFragile X SyndromeGender Differences

Identifiers

PMID39113493
PMCPMC12101574

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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.