ArticleNeurobiology of aging2017
Abnormal trajectories in cerebellum and brainstem volumes in carriers of the fragile X premutation.
Article in Neurobiology of aging, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers.
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.
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.
Who cites it
48 citing papers in PubMed, 62 citations in OpenAlex.
- Open-Label Allopregnanolone Treatment of Men with Fragile X-Associated Tremor/Ataxia Syndrome.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2017Trial
- Cerebellar GABA and executive function among adult female carriers of the fragile X messenger ribonucleoprotein 1 premutation: a pilot study to examine neural underpinnings of the clinical phenotype.Neurobiology of disease · 2026Article
- Aberrant Emotion-Cognition Integration ineNeuro · 2026Article
- Use of Machine Learning to Identify Markers of Risk for Fragile X-Associated Tremor/Ataxia Syndrome: A Preliminary Analysis.Annals of neurology · 2026Article
- The apolipoprotein gene: a modulating role on brain volume and cognitive function in carriers of the fragile X premutation.Neurobiology of disease · 2026Article
- T2-FLAIR hyperintensities in the inferior cerebellar peduncles and their association with clinical symptoms, molecular and MRI markers in maleFrontiers in molecular neuroscience · 2026Article
- Use of the Behavioral Dyscontrol Scale-2 (BDS-2) to measure executive dysfunction in FXTAS.Frontiers in molecular neuroscience · 2026Article
- Chronic pain, fatigue, and emotional distress in femaleFrontiers in molecular neuroscience · 2026Article
- Longitudinal Analysis of Neuroradiological Biomarkers for Fragile X-Associated Tremor/Ataxia Syndrome and Implications for Clinical Trials.Annals of neurology · 2025Article
- A case of fragile X-associated tremor/ataxia syndrome with superior cerebellar peduncle lesions.eNeurologicalSci · 2025Article
- Morphometric Analysis of Neocortical and Infratentorial Structures: Genetic and Environmental Insights from a Twin Neuroanatomical Study.Medicina (Kaunas, Lithuania) · 2025Article
- Biomarkers of balance and gait deficits inFrontiers in aging neuroscience · 2025Review
- Fragile X Syndrome and FMR1 premutation: results from a survey on associated conditions and treatment priorities in Italy.Orphanet journal of rare diseases · 2024Article
- Social Communication Delay in an Unbiased Sample of Preschoolers With theJournal of speech, language, and hearing research : JSLHR · 2024Article
- Enlarged perivascular spaces and their association with motor, cognition, MRI markers and cerebrovascular risk factors in male fragile X premutation carriers.Journal of the neurological sciences · 2024Article
- FXTAS Neuropathology Includes Widespread Reactive Astrogliosis and White Matter Specific Astrocyte Degeneration.Annals of neurology · 2024Article
- FMR1 Carriers Report Executive Function Changes Prior to Fragile X-Associated Tremor/Ataxia Syndrome: A Longitudinal Study.Movement disorders : official journal of the Movement Disorder Society · 2024Article
- Review
- Article
- A postmortem MRI study of cerebrovascular disease and iron content at end-stage of fragile X-associated tremor/ataxia syndrome.Research square · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder typically affecting male premutation carriers with 55-200 CGG trinucleotide repeat expansions in the FMR1 gene after age 50. The aim of this study was to examine whether cerebellar and brainstem changes emerge during development or aging in late life. We retrospectively analyzed magnetic resonance imaging scans from 322 males (age 8-81 years). Volume changes in the cerebellum and brainstem were contrasted with those in the ventricles and whole brain. Compared to the controls, premutation carriers without FXTAS showed significantly accelerated volume decrease in the cerebellum and whole brain, flatter inverted U-shaped trajectory of the brainstem, and larger ventricles. Compared to both older controls and premutation carriers without FXTAS, carriers with FXTAS exhibited significant volume decrease in the cerebellum and whole brain and accelerated volume decrease in the brainstem. We therefore conclude that cerebellar and brainstem volumes were likely affected during both development and progression of neurodegeneration in premutation carriers, suggesting that interventions may need to start early in adulthood to be most effective.
Indexed as
Identifiers
What OpenQuestion holds
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.