ArticleNeuropsychology2012
Capturing the fragile X premutation phenotypes: a collaborative effort across multiple cohorts.
Article in Neuropsychology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Understanding the neuropsychiatric phenotype of fragile X-associated tremor ataxia syndrome: a systematic review.Neuropsychology review · 2014Pooled it
- Open-label pilot clinical trial of citicoline for fragile X-associated tremor/ataxia syndrome (FXTAS).PloS one · 2020Trial
- Cognitive dysfunction in women with theJournal of Alzheimer's disease : JAD · 2026Article
- Progression of fragile X-associated tremor/ataxia syndrome revealed by subtype and stage inference.Brain communications · 2026Article
- Verbal inhibition declines among older women with high FMR1 premutation expansions: A prospective study.Brain and cognition · 2022Article
- Response Inhibition Deficits in Women with the FMR1 Premutation are Associated with Age and Fall Risk.Brain and cognition · 2021Article
- The Role of Glutamate in Language and Language Disorders - Evidence from ERP and Pharmacologic Studies.Neuroscience and biobehavioral reviews · 2020Review
- Inhibition deficits are modulated by age and CGG repeat length in carriers of the FMR1 premutation allele who are mothers of children with fragile X syndrome.Brain and cognition · 2020Article
- Executive Dysfunction in Female FMR1 Premutation Carriers.Cerebellum (London, England) · 2016Article
- Fragile X-associated tremor/ataxia syndrome: phenotypic comparisons with other movement disorders.The Clinical neuropsychologist · 2016Review
- The fragile X mental retardation 1 gene (FMR1): historical perspective, phenotypes, mechanism, pathology, and epidemiology.The Clinical neuropsychologist · 2016Review
- Broad autism spectrum and obsessive-compulsive symptoms in adults with the fragile X premutation.The Clinical neuropsychologist · 2016Article
- Fragile X-associated tremor/ataxia syndrome: another phenotype of the fragile X gene.The Clinical neuropsychologist · 2016Article
- Anxiety disorders in fragile X premutation carriers: Preliminary characterization of probands and non-probands.Intractable & rare diseases research · 2015Article
- Observational
- Temporal dynamics of attentional selection in adult male carriers of the fragile X premutation allele and adult controls.Frontiers in human neuroscience · 2015Article
- Eye movements reveal impaired inhibitory control in adult male fragile X premutation carriers asymptomatic for FXTAS.Neuropsychology · 2014Article
- Towards an Understanding of Neuropsychiatric Manifestations in Fragile X Premutation Carriers.Future neurology · 2014Article
- The cognitive neuropsychological phenotype of carriers of the FMR1 premutation.Journal of neurodevelopmental disorders · 2014Review
- Phenotypes of hypofrontality in older female fragile X premutation carriers.Annals of neurology · 2013Article
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Authors and funding
5 authors.
Funding
Abstract
objectiveTo capture the neuropsychological profile among male carriers of the FMR1 premutation allele (55-200 CGG repeats) who do not meet diagnostic criteria for the late-onset fragile X-associated tremor/ataxia syndrome, FXTAS.
methodWe have initiated a multicenter collaboration that includes 3 independent cohorts, totaling 100 carriers of the premutation and 216 noncarriers. The initial focus of this collaboration has been on executive function. Four executive function scores are shared among the 3 cohorts (Controlled Oral Word Association Test, Stroop Color-Word Test, and Wechsler backward digit span and letter-number sequencing) whereas additional executive function scores are available for specific cohorts (Behavior Dyscontrol Scale, Hayling Sentence Completion Test Part B, and Wisconsin Card Sorting Test). Raw scores were analyzed by using statistical models that adjust for cohort-specific effects as well as age and education.
resultsCarriers scored significantly lower compared to noncarriers on the Stroop Color-Word Test (p = .01), Hayling Sentence Completion Test Part B (p < .01), and Behavioral Dyscontrol Scale (p = .03), with the Hayling displaying a significant age-related decline (p = .01), as assessed by an age and repeat length-group interaction. Follow-up analysis of the collective data did not identify any specific age groups or repeat length ranges (i.e., low premutation = 55-70 repeats, midpremutation = 71-100 repeats, high premutation = 101-199 repeats) that were associated with an increased risk of executive function deficits.
conclusionsPreliminary analyses do not indicate global executive function impairment among male carriers without FXTAS compared to noncarriers. However, impairment in inhibitory capacity may be present among a subset of carriers, though the risk factors for this group do not appear to be related to age or repeat length.
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