ArticleAnnals of neurology2013
Phenotypes of hypofrontality in older female fragile X premutation carriers.
Article in Annals of neurology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled 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.
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.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 30 citations in OpenAlex.
- Understanding the neuropsychiatric phenotype of fragile X-associated tremor ataxia syndrome: a systematic review.Neuropsychology review · 2014Pooled it
- Memantine Improves Attentional Processes in Fragile X-Associated Tremor/Ataxia Syndrome: Electrophysiological Evidence from a Randomized Controlled Trial.Scientific reports · 2016Trial
- Memantine effects on verbal memory in fragile X-associated tremor/ataxia syndrome (FXTAS): a double-blind brain potential study.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2014Trial
- Cognitive dysfunction in women with theJournal of Alzheimer's disease : JAD · 2026Article
- Review
- Executive Function and Working Memory Deficits in Females with Fragile X Premutation.Life (Basel, Switzerland) · 2023Article
- Sensorimotor and inhibitory control in agingFrontiers in human neuroscience · 2023Article
- Fragile X premutation carrier screening in Pakistani preconception women in primary care consultation.BMC women's health · 2022Article
- Cognitive Dysfunction in Repeat Expansion Diseases: A Review.Frontiers in aging neuroscience · 2022Review
- 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
- Complex Neurological Phenotype in Female Carriers ofMolecular neuropsychiatry · 2019Article
- Article
- Curvilinear Association Between Language Disfluency andFrontiers in genetics · 2018Article
- Clinical and molecular correlates in fragile X premutation females.eNeurologicalSci · 2017Article
- 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
- Genetics of primary ovarian insufficiency: a review.Journal of assisted reproduction and genetics · 2014Review
- Abnormal semantic processing in females with fragile X-associated tremor/ataxia syndrome.Genes, brain, and behavior · 2014Article
- Associated features in females with an FMR1 premutation.Journal of neurodevelopmental disorders · 2014Review
- The cognitive neuropsychological phenotype of carriers of the FMR1 premutation.Journal of neurodevelopmental disorders · 2014Review
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
Abstract
objectiveTo investigate the nature of cognitive impairments and underlying brain mechanisms in older female fragile X premutation carriers with and without fragile X-associated tremor/ataxia syndrome (FXTAS).
methodsExtensive neuropsychological testing and cognitive event-related brain potentials (ERPs; particularly, the auditory P300) were examined in 84 female participants: 33 fragile X premutation carriers with FXTAS (mean age = 62.8 years), 25 premutation carriers without FXTAS (mean age = 55.4 years), and 26 normal healthy controls (mean age = 59.3 years).
resultsBoth premutation groups exhibited executive dysfunction on the Behavioral Dyscontrol Scale, with subtle impairments in inhibition and performance monitoring in female carriers without FXTAS, and more substantial deficits in FXTAS women. However, the female carrier group without FXTAS showed more pronounced deficiencies in working memory. Abnormal ERPs were recorded over the frontal lobes, where FXTAS patients showed both P300 amplitude reduction and latency prolongation, whereas only decreased frontal P300 amplitudes were found in carriers without FXTAS. These frontal P300 measures correlated with executive function and information processing speed.
interpretationThe neuropsychological testing and ERP results of the present study provide support for the hypothesis that executive dysfunction is the primary cognitive impairment among older female premutation carriers both with and without FXTAS, although these deficits are relatively mild compared to those in FXTAS males. These findings are consistent with a synergistic effect of the premutation and aging on cognitive impairment among older female fragile X premutation carriers, even in those without FXTAS symptoms.
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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.