Experts and Doctors on fragile x syndrome in United States


Locale: United States
Topic: fragile x syndrome

Top Publications

  1. Sterling A, Rice M, Warren S. Finiteness marking in boys with fragile X syndrome. J Speech Lang Hear Res. 2012;55:1704-15 pubmed publisher
    ..Boys with FXS show a unique profile, unlike children with SLI, in which their use of tense markers may exceed expectations benchmarked to clause length. ..
  2. Maenner M, Baker M, Broman K, Tian J, Barnes J, Atkins A, et al. FMR1 CGG expansions: prevalence and sex ratios. Am J Med Genet B Neuropsychiatr Genet. 2013;162B:466-73 pubmed publisher
    ..66, 95% confidence interval 1.51-1.82). Further research is needed to understand the apparent excess prevalence of males with CGG repeats in this range. ..
  3. Hall S, Dougherty R, Reiss A. Profiles of aberrant white matter microstructure in fragile X syndrome. Neuroimage Clin. 2016;11:133-138 pubmed publisher
    ..Longitudinal studies are needed to confirm these findings. ..
  4. Bhattacharyya A, McMillan E, Wallace K, Tubon T, Capowski E, Svendsen C. Normal Neurogenesis but Abnormal Gene Expression in Human Fragile X Cortical Progenitor Cells. Stem Cells Dev. 2008;17:107-17 pubmed publisher
    ..Therefore, hNPCs have intrinsic characteristics that can be investigated to further our understanding and potential treatment of developmental disorders such as FX. ..
  5. Bilousova T, Dansie L, Ngo M, Aye J, Charles J, Ethell D, et al. Minocycline promotes dendritic spine maturation and improves behavioural performance in the fragile X mouse model. J Med Genet. 2009;46:94-102 pubmed publisher
    ..These findings establish minocycline as a promising therapeutic for the treatment of fragile X mental retardation. ..
  6. Scherr J, Hahn L, Hooper S, Hatton D, Roberts J. HPA axis function predicts development of working memory in boys with FXS. Brain Cogn. 2016;102:80-90 pubmed publisher
    ..This study highlights the benefit of investigations of how dynamic biological and cognitive factors interact and influence cognitive development over time. ..
  7. Logan M. Fragile phagocytes: FMRP positively regulates engulfment activity. J Cell Biol. 2017;216:531-533 pubmed publisher
  8. Mathews D, Kashuk C, Brightwell G, Eichler E, Chakravarti A. Sequence variation within the fragile X locus. Genome Res. 2001;11:1382-91 pubmed
    ..Linkage disequilibrium (LD) at the FMR1 locus, evaluated by conventional LD analysis and by the length of segment shared between any two chromosomes, is extensive across the region. ..
  9. Lovelace J, Wen T, Reinhard S, Hsu M, Sidhu H, Ethell I, et al. Matrix metalloproteinase-9 deletion rescues auditory evoked potential habituation deficit in a mouse model of Fragile X Syndrome. Neurobiol Dis. 2016;89:126-35 pubmed publisher
    ..These data provide a translation relevant electrophysiological biomarker for sensory deficits in FXS and implicate MMP-9 as a target for drug discovery. ..

More Information


  1. Davenport M, Schaefer T, Friedmann K, Fitzpatrick S, Erickson C. Pharmacotherapy for Fragile X Syndrome: Progress to Date. Drugs. 2016;76:431-45 pubmed publisher
  2. Curry C, Stevenson R, Aughton D, Byrne J, Carey J, Cassidy S, et al. Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics. Am J Med Genet. 1997;72:468-77 pubmed
  3. Berry Kravis E, Hessl D, Abbeduto L, Reiss A, Beckel Mitchener A, Urv T. Outcome measures for clinical trials in fragile X syndrome. J Dev Behav Pediatr. 2013;34:508-22 pubmed publisher
  4. Wang W, Zhu J, Chang K, MIN K. DSCR1 interacts with FMRP and is required for spine morphogenesis and local protein synthesis. EMBO J. 2012;31:3655-66 pubmed publisher
    ..Our results imply that DSCR1 is a novel regulator of FMRP and that Fragile X syndrome and Down syndrome may share disturbances in common pathways that regulate dendritic spine morphology and local protein synthesis. ..
  5. Batra R, Charizanis K, Swanson M. Partners in crime: bidirectional transcription in unstable microsatellite disease. Hum Mol Genet. 2010;19:R77-82 pubmed publisher
  6. Chen L, HADD A, Sah S, Filipovic Sadic S, Krosting J, Sekinger E, et al. An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for southern blot analysis. J Mol Diagn. 2010;12:589-600 pubmed publisher
  7. Straiker A, MIN K, Mackie K. Fmr1 deletion enhances and ultimately desensitizes CB(1) signaling in autaptic hippocampal neurons. Neurobiol Dis. 2013;56:1-5 pubmed publisher
    ..Furthermore, the net effect of the loss of FMRP may actually be diminished cannabinoid signaling due to receptor desensitization as an adaptation to 2-AG overproduction. ..
  8. 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...
  9. Ginsberg M, Rubin R, Falcone T, Ting A, Natowicz M. Brain transcriptional and epigenetic associations with autism. PLoS ONE. 2012;7:e44736 pubmed publisher
    ..This work highlights two largely unrecognized molecular pathophysiological themes in autism and suggests differing molecular bases for autism behavioral endophenotypes. ..
  10. McCary L, Roberts J. Early identification of autism in fragile X syndrome: a review. J Intellect Disabil Res. 2013;57:803-14 pubmed publisher
    ..Infant research in both IA and FXS are discussed as well as conclusions and implications for practice and future research. ..
  11. 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
  12. Monzo K, Dowd S, Minden J, Sisson J. Proteomic analysis reveals CCT is a target of Fragile X mental retardation protein regulation in Drosophila. Dev Biol. 2010;340:408-18 pubmed publisher
  13. Westmark C, Westmark P, Malter J. MPEP reduces seizure severity in Fmr-1 KO mice over expressing human Abeta. Int J Clin Exp Pathol. 2009;3:56-68 pubmed
    ..These data suggest that Abeta contributes to seizure incidence and may be an appropriate therapeutic target to lessen seizure pathology in FXS, Alzheimer's disease (AD) and Down syndrome (DS) patients. ..
  14. Zeier Z, Kumar A, Bodhinathan K, Feller J, Foster T, Bloom D. Fragile X mental retardation protein replacement restores hippocampal synaptic function in a mouse model of fragile X syndrome. Gene Ther. 2009;16:1122-9 pubmed publisher
    ..These results indicate that expression of the major CNS isoform of FMRP alone is sufficient to rescue this phenotype and suggest that post-developmental protein replacement may have the potential to improve cognitive function in FXS. ..
  15. Abbeduto L, Murphy M, Kover S, Giles N, Karadottir S, Amman A, et al. Signaling noncomprehension of language: a comparison of fragile X syndrome and Down syndrome. Am J Ment Retard. 2008;113:214-30 pubmed publisher
    ..Preliminary analyses indicated that males with fragile X syndrome signaled noncomprehension less often than did their female peers, even after controlling for differences in nonverbal MA. ..
  16. Guo W, Murthy A, Zhang L, Johnson E, Schaller E, Allan A, et al. Inhibition of GSK3β improves hippocampus-dependent learning and rescues neurogenesis in a mouse model of fragile X syndrome. Hum Mol Genet. 2012;21:681-91 pubmed publisher
    ..Our results point to GSK3β inhibition as a potential treatment for the learning deficits seen in FXS. ..
  17. Stalker H, Keller K, Gray B, Zori R. Concurrence of fragile X syndrome and 47, XYY in an individual with a Prader-Willi-like phenotype. Am J Med Genet A. 2003;116A:176-8 pubmed
    ..To our knowledge, this is the first report of concurrence of XYY and fragile X syndrome in the medical literature. Review of sex chromosome abnormalities associated with fragile X syndrome and phenotypic considerations are presented...
  18. Todd P, Malter J, Mack K. Whisker stimulation-dependent translation of FMRP in the barrel cortex requires activation of type I metabotropic glutamate receptors. Brain Res Mol Brain Res. 2003;110:267-78 pubmed
    ..Taken together, these studies show that experience regulates FMRP production in vivo at the level of translation and supports a role for FMRP in metabotropic glutamate receptor mediated synaptic plasticity. ..
  19. Lubs H, Stevenson R, Schwartz C. Fragile X and X-linked intellectual disability: four decades of discovery. Am J Hum Genet. 2012;90:579-90 pubmed publisher
    ..In large measure, this has been because of the relative ease of identifying families with XLID and finding the responsible mutations, as well as the determined and interactive efforts of a small group of researchers worldwide. ..
  20. 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
    ..This strategy may be useful for identifying heterozygosity or for screening collections of individuals, and it is readily adaptable for screening other repeat disorders...
  21. Rotschafer S, RAZAK K. Altered auditory processing in a mouse model of fragile X syndrome. Brain Res. 2013;1506:12-24 pubmed publisher
    ..Auditory neural responses can serve as outcome measures in preclinical trials of therapeutics for FXS as well as serve as physiological probes to study their mechanisms of action. ..
  22. Dalton K, Holsen L, Abbeduto L, Davidson R. Brain function and gaze fixation during facial-emotion processing in fragile X and autism. Autism Res. 2008;1:231-9 pubmed publisher
  23. Kover S, Abbeduto L. Expressive language in male adolescents with fragile X syndrome with and without comorbid autism. J Intellect Disabil Res. 2010;54:246-65 pubmed publisher
  24. 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
    ..Evolving therapies directed at reducing A? in AD may be applicable to FXS and A? may serve as a plasma-based biomarker to facilitate disease diagnosis or assess therapeutic efficacy...
  25. 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
    ..Our data indicate that cryptic inter-cell mosaicism in DNA methylation can account for the presence of FMR1 mRNA in some individuals with FXS...
  26. Basehore M, Friez M. Molecular analysis of Fragile X syndrome. Curr Protoc Hum Genet. 2009;Chapter 9:Unit 9.5 pubmed publisher
    ..These protocols are also used to evaluate CGG repeat size in two adult-onset conditions known for their association with FMR1 premutation alleles, Fragile X Tremor/Ataxia (FXTAS) syndrome and Premature Ovarian Failure (POF). ..
  27. McDuffie A, Abbeduto L, Lewis P, Kover S, Kim J, Weber A, et al. Autism spectrum disorder in children and adolescents with fragile X syndrome: within-syndrome differences and age-related changes. Am J Intellect Dev Disabil. 2010;115:307-26 pubmed publisher
    ..FMRP did not account for unique variance in autism symptoms over and above nonverbal IQ. ..
  28. Patzlaff N, Nemec K, Malone S, Li Y, Zhao X. Fragile X related protein 1 (FXR1P) regulates proliferation of adult neural stem cells. Hum Mol Genet. 2017;26:1340-1352 pubmed publisher
    ..These results indicate that FXR1P plays an important role in regulating aNSC self-renewal and maintenance in the adult brain, which may have implications for a number of neurodevelopmental and psychiatric disorders. ..
  29. Dansie L, Phommahaxay K, Okusanya A, Uwadia J, Huang M, Rotschafer S, et al. Long-lasting effects of minocycline on behavior in young but not adult Fragile X mice. Neuroscience. 2013;246:186-98 pubmed publisher
    ..This report provides further evidence that minocycline treatment has immediate and long-lasting benefits on FXS-associated behaviors in the Fmr1 KO mouse model. ..
  30. Wheeler A, Raspa M, Hagerman R, Mailick M, Riley C. Implications of the FMR1 Premutation for Children, Adolescents, Adults, and Their Families. Pediatrics. 2017;139:S172-S182 pubmed publisher
  31. 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
    ..These data suggest that mating-related USVs are robust and relevant biomarkers of FXS, and that minocycline treatment is a promising avenue for treatment of FXS symptoms...
  32. Chen L, HADD A, Sah S, Houghton J, Filipovic Sadic S, Zhang W, et al. High-resolution methylation polymerase chain reaction for fragile X analysis: evidence for novel FMR1 methylation patterns undetected in Southern blot analyses. Genet Med. 2011;13:528-538 pubmed publisher
    ..In addition, the identification of novel methylation mosaic patterns revealed after polymerase chain reaction and capillary electrophoresis may be relevant to several FMR1 disorders. ..
  33. Degtyareva N, Petty J. Non-B conformations of CAG repeats using 2-aminopurine. Methods Enzymol. 2011;492:213-31 pubmed publisher
    ..Because 2-aminopurine provides both structural and energetic information via fluorescence and also is an innocuous substitution for adenine, significant progress in elucidating the secondary structures of (CAG) repeats will be achieved. ..
  34. Mines M, Yuskaitis C, King M, Beurel E, Jope R. GSK3 influences social preference and anxiety-related behaviors during social interaction in a mouse model of fragile X syndrome and autism. PLoS ONE. 2010;5:e9706 pubmed publisher
    ..As discussed in the present work, these results suggest a role for GSK3 in social behaviors and implicate inhibition of GSK3 as a potential therapeutic. ..
  35. Roberts J, Mankowski J, Sideris J, Goldman B, Hatton D, Mirrett P, et al. Trajectories and predictors of the development of very young boys with fragile X syndrome. J Pediatr Psychol. 2009;34:827-36 pubmed publisher
    ..Pediatric psychologists need to be informed about the developmental profiles in young children with FXS to accurately diagnose, treat, and support these children and their families. ..
  36. Brega A, Goodrich G, Bennett R, Hessl D, Engle K, Leehey M, et al. The primary cognitive deficit among males with fragile X-associated tremor/ataxia syndrome (FXTAS) is a dysexecutive syndrome. J Clin Exp Neuropsychol. 2008;30:853-69 pubmed publisher
    ..These findings suggest that the impairment of nonexecutive cognitive skills in FXTAS is in large part secondary to executive dysfunction. ..
  37. Lynch G, Rex C, Chen L, Gall C. The substrates of memory: defects, treatments, and enhancement. Eur J Pharmacol. 2008;585:2-13 pubmed publisher
    ..Work now in progress will test if chronic elevation of BDNF enhances memory in normal animals. ..
  38. Kelley D, Davidson R, Elliott J, Lahvis G, Yin J, Bhattacharyya A. The cyclic AMP cascade is altered in the fragile X nervous system. PLoS ONE. 2007;2:e931 pubmed
    ..Pharmacological agents known to modulate the cAMP cascade may be therapeutic in FX patients and can be tested in these models, thus supplementing current efforts centered on mGluR signaling. ..
  39. Todd P, Mack K, Malter J. The fragile X mental retardation protein is required for type-I metabotropic glutamate receptor-dependent translation of PSD-95. Proc Natl Acad Sci U S A. 2003;100:14374-8 pubmed
    ..Taken together, these studies suggest that FMRP is required for mGluR-dependent translation of PSD-95 and provide insights into the pathophysiology of FXS. ..
  40. Wang X, Snape M, Klann E, Stone J, Singh A, Petersen R, et al. Activation of the extracellular signal-regulated kinase pathway contributes to the behavioral deficit of fragile x-syndrome. J Neurochem. 2012;121:672-9 pubmed publisher
    ..These findings suggest that activation of the ERK pathway results in some cardinal cognitive and clinical features in FXS patients and likely have profound translational implications. ..
  41. 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
  42. De La Fuente R, Baumann C, Viveiros M. Role of ATRX in chromatin structure and function: implications for chromosome instability and human disease. Reproduction. 2011;142:221-34 pubmed publisher
  43. Daily D, Ardinger H, Holmes G. Identification and evaluation of mental retardation. Am Fam Physician. 2000;61:1059-67, 1070 pubmed
    ..The family physician is encouraged to continue regular follow-up visits with the child to facilitate a smooth transition to adolescence and young adulthood. ..
  44. Hornstra I, Nelson D, Warren S, Yang T. High resolution methylation analysis of the FMR1 gene trinucleotide repeat region in fragile X syndrome. Hum Mol Genet. 1993;2:1659-65 pubmed
    ..abstract truncated at 250 words) ..