fragile x syndrome

Summary

Summary: A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. INTELLECTUAL DISABILITY occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226)

Top Publications

  1. Olmos Serrano J, Corbin J, Burns M. The GABA(A) receptor agonist THIP ameliorates specific behavioral deficits in the mouse model of fragile X syndrome. Dev Neurosci. 2011;33:395-403 pubmed publisher
    ..to auditory stimuli, and exaggerated fear are common behavioral abnormalities observed in individuals with fragile X syndrome (FXS), a neurodevelopmental disorder that is the most common genetic cause of autism...
  2. Hagerman R, LAUTERBORN J, Au J, Berry Kravis E. Fragile X syndrome and targeted treatment trials. Results Probl Cell Differ. 2012;54:297-335 pubmed publisher
    Work in recent years has revealed an abundance of possible new treatment targets for fragile X syndrome (FXS)...
  3. Deng P, Sojka D, Klyachko V. Abnormal presynaptic short-term plasticity and information processing in a mouse model of fragile X syndrome. J Neurosci. 2011;31:10971-82 pubmed publisher
    b>Fragile X syndrome (FXS) is the most common inherited form of intellectual disability and the leading genetic cause of autism...
  4. Bagni C, Tassone F, Neri G, Hagerman R. Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics. J Clin Invest. 2012;122:4314-22 pubmed publisher
    b>Fragile X syndrome (FXS) is the most frequent form of inherited intellectual disability and is also linked to other neurologic and psychiatric disorders...
  5. Seixas A, Vale J, Jorge P, Marques I, Santos R, Alonso I, et al. FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes. Behav Brain Funct. 2011;7:19 pubmed publisher
    ..In conclusion, genetic testing for FXTAS should be made available to patients with adult-onset movement disorders to enable adequate genetic counseling to family members. ..
  6. Siller S, Broadie K. Matrix metalloproteinases and minocycline: therapeutic avenues for fragile X syndrome. Neural Plast. 2012;2012:124548 pubmed publisher
    b>Fragile X syndrome (FXS) is the most common known genetic form of intellectual disability and autism spectrum disorders...
  7. Qurashi A, Liu H, Ray L, Nelson D, Duan R, Jin P. Chemical screen reveals small molecules suppressing fragile X premutation rCGG repeat-mediated neurodegeneration in Drosophila. Hum Mol Genet. 2012;21:2068-75 pubmed publisher
    ..Our results demonstrate the utility of Drosophila models for unbiased small molecule screens and point to PLA(2) as a possible therapeutic target to treat FXTAS. ..
  8. Todd P, Oh S, Krans A, He F, Sellier C, Frazer M, et al. CGG repeat-associated translation mediates neurodegeneration in fragile X tremor ataxia syndrome. Neuron. 2013;78:440-55 pubmed publisher
    ..These studies expand the growing list of nucleotide repeat disorders in which RAN translation occurs and provide evidence that RAN translation contributes to neurodegeneration. ..
  9. Wang T, Bray S, Warren S. New perspectives on the biology of fragile X syndrome. Curr Opin Genet Dev. 2012;22:256-63 pubmed publisher
    b>Fragile X syndrome (FXS) is a trinucleotide repeat disorder caused by a CGG repeat expansion in FMR1, and loss of its protein product FMRP...

More Information

Publications85

  1. Groh M, Lufino M, Wade Martins R, Gromak N. R-loops associated with triplet repeat expansions promote gene silencing in Friedreich ataxia and fragile X syndrome. PLoS Genet. 2014;10:e1004318 pubmed publisher
    Friedreich ataxia (FRDA) and Fragile X syndrome (FXS) are among 40 diseases associated with expansion of repeated sequences (TREDs)...
  2. Baker J, Seltzer M, Greenberg J. Behaviour problems, maternal internalising symptoms and family relations in families of adolescents and adults with fragile X syndrome. J Intellect Disabil Res. 2012;56:984-95 pubmed publisher
    Studies have linked the behaviour problems of children with fragile X syndrome (FXS) to maternal well-being, but less is known about how behaviour problems relate to important family factors such as marital satisfaction and family ..
  3. Michalon A, Sidorov M, Ballard T, Ozmen L, Spooren W, Wettstein J, et al. Chronic pharmacological mGlu5 inhibition corrects fragile X in adult mice. Neuron. 2012;74:49-56 pubmed publisher
    b>Fragile X syndrome (FXS) is the most common form of inherited intellectual disability...
  4. Allen E, Hunter J, Rusin M, Juncos J, Novak G, Hamilton D, et al. Neuropsychological findings from older premutation carrier males and their noncarrier siblings from families with fragile X syndrome. Neuropsychology. 2011;25:404-411 pubmed publisher
    ..with motor symptoms and 23 without, and 18 noncarrier siblings were recruited from pedigrees diagnosed with fragile X syndrome, all over age 50...
  5. Pastori C, Peschansky V, Barbouth D, Mehta A, Silva J, Wahlestedt C. Comprehensive analysis of the transcriptional landscape of the human FMR1 gene reveals two new long noncoding RNAs differentially expressed in Fragile X syndrome and Fragile X-associated tremor/ataxia syndrome. Hum Genet. 2014;133:59-67 pubmed publisher
    ..Further expansion beyond 200 CGG repeats, or full mutation, leads to FMR1 gene silencing and results in Fragile X syndrome (FXS)...
  6. Monaghan K, Lyon E, Spector E. ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics. Genet Med. 2013;15:575-86 pubmed publisher
    ..Mutations in the FMR1 gene are associated with fragile X syndrome, fragile X tremor ataxia syndrome, and premature ovarian insufficiency...
  7. Sellier C, Freyermuth F, Tabet R, Tran T, He F, Ruffenach F, et al. Sequestration of DROSHA and DGCR8 by expanded CGG RNA repeats alters microRNA processing in fragile X-associated tremor/ataxia syndrome. Cell Rep. 2013;3:869-80 pubmed publisher
    ..These results support a model in which a human neurodegenerative disease originates from the alteration, in trans, of the miRNA-processing machinery...
  8. Brager D, Akhavan A, Johnston D. Impaired dendritic expression and plasticity of h-channels in the fmr1(-/y) mouse model of fragile X syndrome. Cell Rep. 2012;1:225-33 pubmed
    ..into both synaptic and morphological changes, surprisingly little is known about dendritic function in fragile X syndrome (FXS)...
  9. McCary L, Roberts J. Early identification of autism in fragile X syndrome: a review. J Intellect Disabil Res. 2013;57:803-14 pubmed publisher
    b>Fragile X syndrome (FXS) is the leading genetic cause of autism, accounting for approximately 5% of autism cases with as many as 50% of individuals with FXS meeting DSM-IV-TR criteria for autistic disorder...
  10. Yang Q, Feng B, Zhang K, Guo Y, Liu S, Wu Y, et al. Excessive astrocyte-derived neurotrophin-3 contributes to the abnormal neuronal dendritic development in a mouse model of fragile X syndrome. PLoS Genet. 2012;8:e1003172 pubmed publisher
    b>Fragile X syndrome (FXS) is a form of inherited mental retardation in humans that results from expansion of a CGG repeat in the Fmr1 gene. Recent studies suggest a role of astrocytes in neuronal development...
  11. Hagerman P. Fragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms. Acta Neuropathol. 2013;126:1-19 pubmed publisher
    ..Taken together, these recent findings offer hope for early interventions for FXTAS, well before the onset of overt disease, and for the treatment of other forms of clinical involvement among premutation carriers. ..
  12. Paluszkiewicz S, Olmos Serrano J, Corbin J, Huntsman M. Impaired inhibitory control of cortical synchronization in fragile X syndrome. J Neurophysiol. 2011;106:2264-72 pubmed publisher
    b>Fragile X syndrome (FXS) is a neurodevelopmental disorder characterized by severe cognitive impairments, sensory hypersensitivity, and comorbidities with autism and epilepsy...
  13. Rotschafer S, RAZAK K. Altered auditory processing in a mouse model of fragile X syndrome. Brain Res. 2013;1506:12-24 pubmed publisher
    This study provides the first description of auditory cortical processing in a mouse model of Fragile X Syndrome (FXS). FXS is a genetic cause of intellectual impairment and is an autism spectrum disorder...
  14. Ronesi J, Collins K, Hays S, Tsai N, Guo W, Birnbaum S, et al. Disrupted Homer scaffolds mediate abnormal mGluR5 function in a mouse model of fragile X syndrome. Nat Neurosci. 2012;15:431-40, S1 pubmed publisher
    ..glutamate receptor subunit 5 (mGluR5) function is causally associated with the pathophysiology of fragile X syndrome, a leading inherited cause of intellectual disability and autism...
  15. Thomas A, Bui N, Perkins J, Yuva Paylor L, Paylor R. Group I metabotropic glutamate receptor antagonists alter select behaviors in a mouse model for fragile X syndrome. Psychopharmacology (Berl). 2012;219:47-58 pubmed publisher
    Studies in the Fmr1 knockout (KO) mouse, a model of fragile X syndrome (FXS), suggest that excessive signaling through group I metabotropic glutamate receptors (mGluRs), comprised of subtypes mGluR1 and mGluR5, may play a role in the ..
  16. Alisch R, Wang T, Chopra P, Visootsak J, Conneely K, Warren S. Genome-wide analysis validates aberrant methylation in fragile X syndrome is specific to the FMR1 locus. BMC Med Genet. 2013;14:18 pubmed publisher
    b>Fragile X syndrome (FXS) is a common form of inherited intellectual disability caused by an expansion of CGG repeats located in the 5' untranslated region (UTR) of the FMR1 gene, which leads to hypermethylation and silencing of this locus...
  17. Fung L, Quintin E, Haas B, Reiss A. Conceptualizing neurodevelopmental disorders through a mechanistic understanding of fragile X syndrome and Williams syndrome. Curr Opin Neurol. 2012;25:112-24 pubmed publisher
    The overarching goal of this review is to compare and contrast the cognitive-behavioral features of fragile X syndrome (FraX) and Williams syndrome and to review the putative neural and molecular underpinnings of these features...
  18. Pirozzi F, Tabolacci E, Neri G. The FRAXopathies: definition, overview, and update. Am J Med Genet A. 2011;155A:1803-16 pubmed publisher
    The fragile X syndrome, fragile X tremor ataxia syndrome, and premature ovarian insufficiency are conditions related to the X chromosome folate-sensitive fragile site FRAXA...
  19. Hagerman R, Hagerman P. Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome. Lancet Neurol. 2013;12:786-98 pubmed publisher
    b>Fragile X syndrome, the most common heritable form of cognitive impairment, is caused by epigenetic silencing of the fragile X (FMR1) gene owing to large expansions (>200 repeats) of a non-coding CGG-repeat element...
  20. Guo W, Murthy A, Zhang L, Johnson E, Schaller E, Allan A, et al. Inhibition of GSK3? improves hippocampus-dependent learning and rescues neurogenesis in a mouse model of fragile X syndrome. Hum Mol Genet. 2012;21:681-91 pubmed publisher
    b>Fragile X syndrome (FXS), a common inherited form of intellectual disability with learning deficits, results from a loss of fragile X mental retardation protein (FMRP). Despite extensive research, treatment options for FXS remain limited...
  21. Paluszkiewicz S, Martin B, Huntsman M. Fragile X syndrome: the GABAergic system and circuit dysfunction. Dev Neurosci. 2011;33:349-64 pubmed publisher
    b>Fragile X syndrome (FXS) is a neurodevelopmental disorder characterized by intellectual disability, sensory hypersensitivity, and high incidences of autism spectrum disorders and epilepsy...
  22. Klemmer P, Meredith R, Holmgren C, Klychnikov O, Stahl Zeng J, Loos M, et al. Proteomics, ultrastructure, and physiology of hippocampal synapses in a fragile X syndrome mouse model reveal presynaptic phenotype. J Biol Chem. 2011;286:25495-504 pubmed publisher
    b>Fragile X syndrome (FXS), the most common form of hereditary mental retardation, is caused by a loss-of-function mutation of the Fmr1 gene, which encodes fragile X mental retardation protein (FMRP)...
  23. Gross C, Berry Kravis E, Bassell G. Therapeutic strategies in fragile X syndrome: dysregulated mGluR signaling and beyond. Neuropsychopharmacology. 2012;37:178-95 pubmed publisher
    b>Fragile X syndrome (FXS) is an inherited neurodevelopmental disease caused by loss of function of the fragile X mental retardation protein (FMRP)...
  24. Datta S, Alam M, Majumdar S, Mehta A, Maiti S, Wadhwa N, et al. Nucleosomal occupancy and CGG repeat expansion: a comparative analysis of triplet repeat region from mouse and human fragile X mental retardation gene 1. Chromosome Res. 2011;19:445-55 pubmed publisher
    The expansion of CGG repeats in the 5'-untranslated region (5'UTR) of FMR1 gene is the molecular basis of fragile X syndrome in most of the patients...
  25. Bailey D, Raspa M, Bishop E, Mitra D, Martin S, Wheeler A, et al. Health and economic consequences of fragile X syndrome for caregivers. J Dev Behav Pediatr. 2012;33:705-12 pubmed publisher
    To describe the health and economic burden experienced by caregivers of individuals with fragile X syndrome (FXS) and test the assumption that burden is associated with specific dimensions of problem behavior.
  26. Wijetunge L, Chattarji S, Wyllie D, Kind P. Fragile X syndrome: from targets to treatments. Neuropharmacology. 2013;68:83-96 pubmed publisher
    b>Fragile X syndrome (FXS) is one of the most prevalent and well-studied monogenetic causes of intellectual disability and autism and, although rare, its high penetrance makes it a desirable model for the study of neurodevelopmental ..
  27. Van der Molen M, van der Molen M, Ridderinkhof K, Hamel B, Curfs L, Ramakers G. Auditory and visual cortical activity during selective attention in fragile X syndrome: a cascade of processing deficiencies. Clin Neurophysiol. 2012;123:720-9 pubmed publisher
    This study examined whether attention deficits in fragile X syndrome (FXS) can be traced back to abnormalities in basic information processing.
  28. Tessier C, Broadie K. Molecular and genetic analysis of the Drosophila model of fragile X syndrome. Results Probl Cell Differ. 2012;54:119-56 pubmed publisher
    ..focus on one of the most advanced examples of Drosophila genetic disease modeling, the Drosophila model of Fragile X Syndrome, which for the past decade has provided key advances into the molecular, cellular, and behavioral defects ..
  29. Hoeffer C, Sanchez E, Hagerman R, Mu Y, Nguyen D, Wong H, et al. Altered mTOR signaling and enhanced CYFIP2 expression levels in subjects with fragile X syndrome. Genes Brain Behav. 2012;11:332-41 pubmed publisher
    b>Fragile X syndrome (FXS) is the most common form of inherited intellectual disability and autism. The protein (FMRP) encoded by the fragile X mental retardation gene (FMR1), is an RNA-binding protein linked to translational control...
  30. Tranfaglia M. The psychiatric presentation of fragile x: evolution of the diagnosis and treatment of the psychiatric comorbidities of fragile X syndrome. Dev Neurosci. 2011;33:337-48 pubmed publisher
    b>Fragile X syndrome (FXS) is the leading inherited cause of mental retardation and autism spectrum disorders worldwide. It presents with a distinct behavioral phenotype which overlaps significantly with that of autism...
  31. Berry Kravis E, Hessl D, Rathmell B, Zarevics P, Cherubini M, Walton Bowen K, et al. Effects of STX209 (arbaclofen) on neurobehavioral function in children and adults with fragile X syndrome: a randomized, controlled, phase 2 trial. Sci Transl Med. 2012;4:152ra127 pubmed
    Research on animal models of fragile X syndrome suggests that STX209, a ?-aminobutyric acid type B (GABA(B)) agonist, might improve neurobehavioral function in affected patients...
  32. Smith L, Barker E, Seltzer M, Abbeduto L, Greenberg J. Behavioral phenotype of fragile X syndrome in adolescence and adulthood. Am J Intellect Dev Disabil. 2012;117:1-17 pubmed publisher
    The present study explored the behavioral profile of individuals with fragile X syndrome during adolescence and adulthood...
  33. Farzin F, Rivera S, Whitney D. Resolution of spatial and temporal visual attention in infants with fragile X syndrome. Brain. 2011;134:3355-68 pubmed publisher
    b>Fragile X syndrome is the most common cause of inherited intellectual impairment and the most common single-gene cause of autism...
  34. Rotschafer S, Trujillo M, Dansie L, Ethell I, Razak K. Minocycline treatment reverses ultrasonic vocalization production deficit in a mouse model of Fragile X Syndrome. Brain Res. 2012;1439:7-14 pubmed publisher
    b>Fragile X Syndrome (FXS) is the most common inherited form of intellectual disability, with behaviors characteristic of autism. Symptoms include abnormal social behavior, repetitive behavior, communication disorders, and seizures...
  35. Jung K, Sepers M, Henstridge C, Lassalle O, Neuhofer D, Martin H, et al. Uncoupling of the endocannabinoid signalling complex in a mouse model of fragile X syndrome. Nat Commun. 2012;3:1080 pubmed publisher
    b>Fragile X syndrome, the most commonly known genetic cause of autism, is due to loss of the fragile X mental retardation protein, which regulates signal transduction at metabotropic glutamate receptor-5 in the brain...
  36. Seltzer M, Barker E, Greenberg J, Hong J, Coe C, Almeida D. Differential sensitivity to life stress in FMR1 premutation carrier mothers of children with fragile X syndrome. Health Psychol. 2012;31:612-22 pubmed publisher
    ..The premutation of the FMR1 gene (defined as between 55 and 200 CGG repeats) is estimated to affect 1 in 149 females and 1 in 643 males, and some people who carry the FMR1 premutation display signs of impairment...
  37. Osterweil E, Chuang S, Chubykin A, Sidorov M, Bianchi R, Wong R, et al. Lovastatin corrects excess protein synthesis and prevents epileptogenesis in a mouse model of fragile X syndrome. Neuron. 2013;77:243-50 pubmed publisher
    Many neuropsychiatric symptoms of fragile X syndrome (FXS) are believed to be a consequence of altered regulation of protein synthesis at synapses...
  38. Moskowitz L, Carr E, Durand V. Behavioral intervention for problem behavior in children with fragile X syndrome. Am J Intellect Dev Disabil. 2011;116:457-78 pubmed publisher
    Parents and professionals typically report problem behavior as a significant concern for children with fragile X syndrome. In the present study, the authors explored whether behaviorally based interventions would result in a reduction in ..
  39. Hazlett H, Poe M, Lightbody A, Styner M, MacFall J, Reiss A, et al. Trajectories of early brain volume development in fragile X syndrome and autism. J Am Acad Child Adolesc Psychiatry. 2012;51:921-33 pubmed publisher
    To examine patterns of early brain growth in young children with fragile X syndrome (FXS) compared with a comparison group (controls) and a group with idiopathic autism.
  40. Bailey D, Raspa M, Bishop E, Olmsted M, Mallya U, Berry Kravis E. Medication utilization for targeted symptoms in children and adults with fragile X syndrome: US survey. J Dev Behav Pediatr. 2012;33:62-9 pubmed publisher
    To identify the most common neurological and behavioral symptoms treated by medications in individuals with fragile X syndrome (FXS), factors associated with treatment variability, and difficulty in swallowing a pill.
  41. Bagni C, Oostra B. Fragile X syndrome: From protein function to therapy. Am J Med Genet A. 2013;161A:2809-21 pubmed publisher
    b>Fragile X syndrome (FXS) is the leading monogenic cause of intellectual disability and autism. The FMR1 gene contains a CGG repeat present in the 5'-untranslated region which can be unstable upon transmission to the next generation...
  42. McDuffie A, Kover S, Abbeduto L, Lewis P, Brown T. Profiles of receptive and expressive language abilities in boys with comorbid fragile X syndrome and autism. Am J Intellect Dev Disabil. 2012;117:18-32 pubmed publisher
    ..receptive and expressive language profiles for a group of verbal male children and adolescents who had fragile X syndrome along with varying degrees of autism symptoms...
  43. Rooms L, Kooy R. Advances in understanding fragile X syndrome and related disorders. Curr Opin Pediatr. 2011;23:601-6 pubmed publisher
    b>Fragile X syndrome is the most common form of inherited intellectual disability. Over the past 2 decades, insights into the cause of this disease have increased tremendously...
  44. Sansone S, Widaman K, Hall S, Reiss A, Lightbody A, Kaufmann W, et al. Psychometric study of the Aberrant Behavior Checklist in Fragile X Syndrome and implications for targeted treatment. J Autism Dev Disord. 2012;42:1377-92 pubmed publisher
    Animal studies elucidating the neurobiology of fragile X syndrome (FXS) have led to multiple controlled trials in humans, with the Aberrant Behavior Checklist-Community (ABC-C) commonly adopted as a primary outcome measure...
  45. Veeraragavan S, Bui N, Perkins J, Yuva Paylor L, Carpenter R, Paylor R. Modulation of behavioral phenotypes by a muscarinic M1 antagonist in a mouse model of fragile X syndrome. Psychopharmacology (Berl). 2011;217:143-51 pubmed publisher
    ..signaling in the fragile X knockout (Fmr1 KO) mouse model, suggesting the involvement of the M1 receptors in fragile X syndrome. Overactive signaling through the M1 receptor has been hypothesized to contribute to the phenotypes seen in ..
  46. Lu C, Lin L, Tan H, Wu H, Sherman S, Gao F, et al. Fragile X premutation RNA is sufficient to cause primary ovarian insufficiency in mice. Hum Mol Genet. 2012;21:5039-47 pubmed publisher
    ..These results together suggest that FMR1 premutation RNA could cause the POI associated with FMR1 premutation carriers, and the Akt/mTOR pathway may serve as a therapeutic target for FXPOI...
  47. Roberts J, Tonnsen B, Robinson A, Shinkareva S. Heart activity and autistic behavior in infants and toddlers with fragile X syndrome. Am J Intellect Dev Disabil. 2012;117:90-102 pubmed publisher
    The present study contrasted physiological arousal in infants and toddlers with fragile X syndrome to typically developing control participants and examined physiological predictors early in development to autism severity later in ..
  48. Curtis Cioffi K, Rodrigueiro D, Rodrigues V, Cicarelli R, Scarel Caminaga R. Comparison between the polymerase chain reaction-based screening and the Southern blot methods for identification of fragile X syndrome. Genet Test Mol Biomarkers. 2012;16:1303-8 pubmed publisher
    The fragile X syndrome (FXS), the most common cause of hereditary mental retardation, is caused by expansions of CGG repeats in the FMR1 gene. The gold-standard method to diagnose FXS is the Southern blot (SB)...
  49. Siller S, Broadie K. Neural circuit architecture defects in a Drosophila model of Fragile X syndrome are alleviated by minocycline treatment and genetic removal of matrix metalloproteinase. Dis Model Mech. 2011;4:673-85 pubmed publisher
    b>Fragile X syndrome (FXS), caused by loss of the fragile X mental retardation 1 (FMR1) product (FMRP), is the most common cause of inherited intellectual disability and autism spectrum disorders...
  50. Westmark C, Westmark P, O Riordan K, Ray B, Hervey C, Salamat M, et al. Reversal of fragile X phenotypes by manipulation of A?PP/A? levels in Fmr1KO mice. PLoS ONE. 2011;6:e26549 pubmed publisher
    b>Fragile X syndrome (FXS) is the most common form of inherited intellectual disability and the leading known genetic cause of autism...
  51. Wolff J, Bodfish J, Hazlett H, Lightbody A, Reiss A, Piven J. Evidence of a distinct behavioral phenotype in young boys with fragile X syndrome and autism. J Am Acad Child Adolesc Psychiatry. 2012;51:1324-32 pubmed publisher
    How does the behavioral expression of autism in fragile X syndrome (FXS + Aut) compare with idiopathic autism (iAut)? Although social impairments and restricted, repetitive behaviors are common to these variants of autism, closer ..
  52. Van der Molen M, van der Molen M. Reduced alpha and exaggerated theta power during the resting-state EEG in fragile X syndrome. Biol Psychol. 2013;92:216-9 pubmed publisher
    This study characterizes the resting-state EEG in males with fragile X syndrome to reveal abnormalities in oscillatory brain dynamics...
  53. Santoro M, Bray S, Warren S. Molecular mechanisms of fragile X syndrome: a twenty-year perspective. Annu Rev Pathol. 2012;7:219-45 pubmed publisher
    b>Fragile X syndrome (FXS) is a common form of inherited intellectual disability and is one of the leading known causes of autism...
  54. Bhattacharya A, Kaphzan H, Alvarez Dieppa A, Murphy J, Pierre P, Klann E. Genetic removal of p70 S6 kinase 1 corrects molecular, synaptic, and behavioral phenotypes in fragile X syndrome mice. Neuron. 2012;76:325-37 pubmed publisher
    b>Fragile X syndrome (FXS) is the leading inherited cause of autism and intellectual disability...
  55. Healy A, Rush R, Ocain T. Fragile X syndrome: an update on developing treatment modalities. ACS Chem Neurosci. 2011;2:402-10 pubmed publisher
    ..Moreover, pharmaceutical therapies targeting the most common form of inherited ID, Fragile X syndrome (FXS), may become the new benchmark for central nervous system (CNS) drug discovery: seeking cures for ..
  56. Hogan Brown A, Losh M, Martin G, Mueffelmann D. An investigation of narrative ability in boys with autism and fragile X syndrome. Am J Intellect Dev Disabil. 2013;118:77-94 pubmed publisher
    Whereas pragmatic language difficulties are characteristic of both autism and Fragile X syndrome, it is unclear whether such deficits are qualitatively similar or whether certain skills are differentially affected...
  57. Van der Molen M, van der Molen M, Ridderinkhof K, Hamel B, Curfs L, Ramakers G. Auditory change detection in fragile X syndrome males: a brain potential study. Clin Neurophysiol. 2012;123:1309-18 pubmed publisher
    ..investigated involuntary change detection in a two-tone pre-attentive auditory discrimination paradigm in order to better understand the information processing mechanisms underlying attention deficits in fragile X syndrome (FXS) males.
  58. He C, Portera Cailliau C. The trouble with spines in fragile X syndrome: density, maturity and plasticity. Neuroscience. 2013;251:120-8 pubmed publisher
    ..That spines are abnormal in fragile X syndrome (FXS) and in the best-studied animal model of this disorder, the Fmr1 knockout mouse, is an undeniable fact...
  59. Willemsen R, Levenga J, Oostra B. CGG repeat in the FMR1 gene: size matters. Clin Genet. 2011;80:214-25 pubmed publisher
    ..The repeat is up to 55 CGGs long in the normal population. In patients with fragile X syndrome (FXS), a repeat length exceeding 200 CGGs (full mutation: FM) generally leads to methylation of the repeat ..
  60. Colak D, Zaninovic N, Cohen M, Rosenwaks Z, Yang W, Gerhardt J, et al. Promoter-bound trinucleotide repeat mRNA drives epigenetic silencing in fragile X syndrome. Science. 2014;343:1002-5 pubmed publisher
    Epigenetic gene silencing is seen in several repeat-expansion diseases. In fragile X syndrome, the most common genetic form of mental retardation, a CGG trinucleotide-repeat expansion adjacent to the fragile X mental retardation 1 (FMR1) ..
  61. Fourie C, Theron L. Resilience in the face of fragile X syndrome. Qual Health Res. 2012;22:1355-68 pubmed publisher
    ..article, we communicate transformative findings from a case study on the resilience of a young woman with fragile X syndrome (FXS), a genetic condition involving mental impairment and physical, emotional, and behavioral challenges...
  62. Hunsaker M, Kim K, Willemsen R, Berman R. CGG trinucleotide repeat length modulates neural plasticity and spatiotemporal processing in a mouse model of the fragile X premutation. Hippocampus. 2012;22:2260-75 pubmed publisher
    ..These data provide evidence for a neurocognitive endophenotype in the CGG KI mouse model of the premutation in which CGG repeat length negatively modulates plasticity and spatiotemporal attention...
  63. Cannon B, Pan C, Chen L, Hadd A, Russell R. A dual-mode single-molecule fluorescence assay for the detection of expanded CGG repeats in Fragile X syndrome. Mol Biotechnol. 2013;53:19-28 pubmed publisher
    b>Fragile X syndrome is the leading cause of inherited mental impairment and is associated with expansions of CGG repeats within the FMR1 gene...
  64. Heilman K, Harden E, Zageris D, Berry Kravis E, Porges S. Autonomic regulation in fragile X syndrome. Dev Psychobiol. 2011;53:785-95 pubmed publisher
    Autonomic reactivity was studied in individuals with fragile X syndrome (FXS), a genetic disorder partially characterized by abnormal social behavior...
  65. Portera Cailliau C. Which comes first in fragile X syndrome, dendritic spine dysgenesis or defects in circuit plasticity?. Neuroscientist. 2012;18:28-44 pubmed publisher
    The salient neuropathological defect in fragile X syndrome is the overabundance of immature dendritic spines in cortical pyramidal neurons...
  66. De Rubeis S, Fernandez E, Buzzi A, Di Marino D, Bagni C. Molecular and cellular aspects of mental retardation in the Fragile X syndrome: from gene mutation/s to spine dysmorphogenesis. Adv Exp Med Biol. 2012;970:517-51 pubmed publisher
    The Fragile X syndrome (FXS) is the most frequent form of inherited mental retardation and also considered a monogenic cause of Autism Spectrum Disorder...
  67. Padmashri R, Reiner B, Suresh A, Spartz E, Dunaevsky A. Altered structural and functional synaptic plasticity with motor skill learning in a mouse model of fragile X syndrome. J Neurosci. 2013;33:19715-23 pubmed publisher
    b>Fragile X syndrome (FXS) is the most common inherited intellectual disability. FXS results from a mutation that causes silencing of the FMR1 gene, which encodes the fragile X mental retardation protein...
  68. Kindler S, Kreienkamp H. The role of the postsynaptic density in the pathology of the fragile X syndrome. Results Probl Cell Differ. 2012;54:61-80 pubmed publisher
    ..In agreement with this notion functional loss of FMRP in patients affected by the fragile X syndrome (FXS) causes cognitive impairment...
  69. Winarni T, Chonchaiya W, Sumekar T, Ashwood P, Morales G, Tassone F, et al. Immune-mediated disorders among women carriers of fragile X premutation alleles. Am J Med Genet A. 2012;158A:2473-81 pubmed publisher
    ..4 times higher when compared to carriers without FXPOI (95% CI 1.1-5.0; P = 0.021). The likelihood of IMD in carriers with or without FXPOI is greater (OR 2.4, 95% CI 1.1-5.0; P = 0.021) compared to that of controls...
  70. Darnell J, Van Driesche S, Zhang C, Hung K, Mele A, Fraser C, et al. FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism. Cell. 2011;146:247-61 pubmed publisher
    FMRP loss of function causes Fragile X syndrome (FXS) and autistic features...
  71. Leigh M, Nguyen D, Mu Y, Winarni T, Schneider A, Chechi T, et al. A randomized double-blind, placebo-controlled trial of minocycline in children and adolescents with fragile x syndrome. J Dev Behav Pediatr. 2013;34:147-55 pubmed publisher
    ..Previous open-label human studies demonstrated benefits in individuals with fragile X syndrome (FXS); however, its efficacy in patients with FXS has not been assessed in a controlled trial.
  72. Thomas A, Bui N, Graham D, Perkins J, Yuva Paylor L, Paylor R. Genetic reduction of group 1 metabotropic glutamate receptors alters select behaviors in a mouse model for fragile X syndrome. Behav Brain Res. 2011;223:310-21 pubmed publisher
    Genetic heterogeneity likely contributes to variability in the symptoms among individuals with fragile X syndrome (FXS)...
  73. Van der Molen M, van der Molen M, Ridderinkhof K, Hamel B, Curfs L, Ramakers G. Attentional set-shifting in fragile X syndrome. Brain Cogn. 2012;78:206-17 pubmed publisher
    ..ability to flexibly adapt to the changing demands of the environment is often reported as a core deficit in fragile X syndrome (FXS). However, the cognitive processes that determine this attentional set-shifting deficit remain elusive...
  74. Bongmba O, Martinez L, Elhardt M, Butler K, Tejada Simon M. Modulation of dendritic spines and synaptic function by Rac1: a possible link to Fragile X syndrome pathology. Brain Res. 2011;1399:79-95 pubmed publisher
    ..Dendrite and spine abnormalities have been implicated in several psychiatric disorders such as Fragile X syndrome, where neurons show a high density of long, thin, and immature dendritic spines...
  75. Goebel Goody S, Lombroso P. Taking STEPs forward to understand fragile X syndrome. Results Probl Cell Differ. 2012;54:223-41 pubmed publisher
    A priority of fragile X syndrome (FXS) research is to determine the molecular mechanisms underlying the functional, behavioral, and structural deficits in humans and in the FXS mouse model...
  76. Stöger R, Genereux D, Hagerman R, Hagerman P, Tassone F, Laird C. Testing the FMR1 promoter for mosaicism in DNA methylation among CpG sites, strands, and cells in FMR1-expressing males with fragile X syndrome. PLoS ONE. 2011;6:e23648 pubmed publisher
    Variability among individuals in the severity of fragile X syndrome (FXS) is influenced by epigenetic methylation mosaicism, which may also be common in other complex disorders...