ArticleBiological psychiatry2011
Decreased fragile X mental retardation protein expression underlies amygdala dysfunction in carriers of the fragile X premutation.
Article in Biological psychiatry, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 69 papers, 2 of them syntheses that pooled it.
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Who cites it
69 citing papers in PubMed, 2 syntheses or guidelines pooled it, 95 citations in OpenAlex.
- Neuroimaging Insight Into Fragile X-Associated Neuropsychiatric Disorders: Literature Review.Frontiers in psychiatry · 2021Pooled it
- Understanding the neuropsychiatric phenotype of fragile X-associated tremor ataxia syndrome: a systematic review.Neuropsychology review · 2014Pooled it
- Emotion potentiated startle in fragile X syndrome.Journal of autism and developmental disorders · 2014Trial
- Aberrant Emotion-Cognition Integration ineNeuro · 2026Article
- Psychiatric Manifestations in Early to Middle Stages of Fragile X-Associated Tremor-Ataxia Syndrome (FXTAS).The Journal of neuropsychiatry and clinical neurosciences · 2025Article
- Social Communication Delay in an Unbiased Sample of Preschoolers With theJournal of speech, language, and hearing research : JSLHR · 2024Article
- Review
- The comparison of expressed emotion of parents of individuals with fragile X syndrome to other intellectual disabilities.Journal of applied research in intellectual disabilities : JARID · 2023Article
- Clinical and Molecular Correlates of Abnormal Changes in the Cerebellum and Globus Pallidus in Fragile X Premutation.Frontiers in neurology · 2022Article
- The Phenotypic Profile Associated With theFrontiers in psychiatry · 2021Article
- Physiological regulation and social-emotional processing in female carriers of the FMR1 premutation.Physiology & behavior · 2020Article
- Reduced perineuronal net expression in Fmr1 KO mice auditory cortex and amygdala is linked to impaired fear-associated memory.Neurobiology of learning and memory · 2019Article
- Differentiating social preference and social anxiety phenotypes in fragile X syndrome using an eye gaze analysis: a pilot study.Journal of neurodevelopmental disorders · 2019Article
- Vagal Tone as a Putative Mechanism for Pragmatic Competence: An Investigation of Carriers of the FMR1 Premutation.Journal of autism and developmental disorders · 2019Article
- Article
- The other side of the coin: Hypersociability.Genes, brain, and behavior · 2019Review
- Age- and CGG repeat-related slowing of manual movement in fragile X carriers: A prodrome of fragile X-associated tremor ataxia syndrome?Movement disorders : official journal of the Movement Disorder Society · 2018Article
- Fragile X-Associated Neuropsychiatric Disorders (FXAND).Frontiers in psychiatry · 2018Review
- Age-related functional brain changes inNeuroImage. Clinical · 2018Article
- Modeling a linkage between blood transcriptional expression and activity in brain regions to infer the phenotype of schizophrenia patients.NPJ schizophrenia · 2017Article
9 more citing papers are in PubMed but not listed here.
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10 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundThe fragile X premutation provides a unique opportunity for the study of genetic and brain mechanisms of behavior and cognition in the context of neurodevelopment and neurodegeneration. Although the neurodegenerative phenotype, fragile X-associated tremor/ataxia syndrome, is well described, evidence of a causal link between the premutation and psychiatric disorder earlier in life, clear delineation of a behavioral/cognitive phenotype, and characterization of the physiological basis of observed symptoms have been elusive.
methodsWe completed functional magnetic resonance imaging targeting the amygdala with an emotion-matching task and concurrent infrared eye tracking, FMR1 molecular genetic testing, and neuropsychological assessment in 23 men with the premutation (mean age = 32.9 years) and 25 male control subjects (mean age = 30.1 years).
resultsPremutation carriers had significantly smaller left and right amygdala volume and reduced right amygdala activation during the task relative to control subjects. Although both elevated FMR1 messenger RNA and reduced fragile X mental retardation protein (FMRP) were associated with the reduced activation, multiple regression analysis suggested that reduced FMRP is the primary factor. Premutation carriers also had higher ratings of autism spectrum symptoms than control subjects, which were associated with the reduced amygdala response.
conclusionsAlthough prior studies have emphasized a toxic gain-of-function effect of elevated messenger RNA associated with the premutation, the current results point to the role of reduced FMRP in alterations of brain activity and behavior.
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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.