Evidence map›Paper›PMID 41999052›Full record

ArticleAnnals of neurology2026

Use of Machine Learning to Identify Markers of Risk for Fragile X-Associated Tremor/Ataxia Syndrome: A Preliminary Analysis.

Chitrabhanu Gupta, Angeela Poudel, Jun Yi Wang, Randi Hagerman, Glenda Espinal, Jessica Famula, Andrea Schneider, Flora Tassone, Susan M Rivera, Chen-Nee Chuah and 1 more

Abstract read
In one paragraph

Article in Annals of neurology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

11 authors.

Chitrabhanu GuptaDepartment of Electrical & Computer Engineering, University of California, Davis, CA.
Angeela PoudelMIND Institute, University of California - Davis Health, Sacramento, CA.
Jun Yi WangMIND Institute, University of California - Davis Health, Sacramento, CA.
Randi HagermanMIND Institute, University of California - Davis Health, Sacramento, CA.
Glenda EspinalMIND Institute, University of California - Davis Health, Sacramento, CA.
Jessica FamulaMIND Institute, University of California - Davis Health, Sacramento, CA.
Andrea SchneiderMIND Institute, University of California - Davis Health, Sacramento, CA.
Flora TassoneMIND Institute, University of California - Davis Health, Sacramento, CA.
Susan M RiveraMIND Institute, University of California - Davis Health, Sacramento, CA.
Chen-Nee ChuahDepartment of Electrical & Computer Engineering, University of California, Davis, CA.
David HesslMIND Institute, University of California - Davis Health, Sacramento, CA.

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 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 objective of this study was to examine whether machine learning has the capacity to prospectively identify and predict the emergence of Fragile X-associated tremor/ataxia syndrome (FXTAS) among male fragile X premutation carriers (PCs).

methodsWe explored neuropsychological and motor evaluation metrics, brain magnetic resonance imaging (MRI), and health metrics in 103 male participants (72 PCs, mean = 60.4 years at enrollment) and 31 healthy controls (HCs; mean = 57.8 years at enrollment) across a total of 299 visits to identify optimal FXTAS risk markers. We compared different machine learning model and feature selection method combinations to identify the best features and models for (a) identifying patients with FXTAS and (b) for predicting which individuals were likely to later develop FXTAS in the study to date. Using an optimal set of features (including age, psychological symptoms, executive function and motor measures, IQ, body mass index (BMI), and structural brain measurements), we developed random forest binary classifiers for the 2 tasks. We split the dataset randomly into multiple different train and test splits and observed the average classification performance metrics across all the splits.

resultsThe models showed promising ability to identify and pre-emptively predict the emergence of FXTAS and achieved a reasonable balance between precision and recall. Accumulation of body fat (BMI), executive function weaknesses, slower reaction time and dexterity, and mental health changes, are clinical factors that may significantly increase a carrier's risk. Structural brain MRI measurements significantly added to the predictive power of the models.

interpretationThese results suggest that machine learning has the potential to inform prediction of risk for FXTAS early, enabling better planning, timely interventions, and provision of necessary care. ANN NEUROL 2026;100:36-47.

Indexed as

AtaxiaFragile X SyndromeMachine LearningTremorAgedBrainFragile X Messenger Ribonucleoprotein 1HumansMagnetic Resonance ImagingMaleMiddle AgedPredictive Learning ModelsRandom ForestRisk FactorsFragile X Messenger Ribonucleoprotein 1

Identifiers

PMID41999052
PMCPMC13245141

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
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 Socratic graph.