Randi Hagerman

Summary

Affiliation: University of California
Country: USA

Publications

  1. pmc Fragile x syndrome
    Yingratana McLennan
    Medical Investigation of Neurodevelopmental Disorders M I N D Institute, University of California Davis Health System, Sacramento, California, USA
    Curr Genomics 12:216-24. 2011
  2. pmc A Quantitative Assessment of Tremor and Ataxia in Female FMR1 Premutation Carriers Using CATSYS
    Vivien Narcisa
    Medical Investigation of Neurodevelopmental Disorders MIND Institute, University of California Davis Medical Center, 2825 50th Street, Sacramento, CA 95817, USA Department of Pediatrics, University of California Davis Medical Center, 2516 Stockton Boulevard, Sacramento, CA 95817, USA
    Curr Gerontol Geriatr Res 2011:484713. 2011
  3. pmc Monoclonal Gammopathy of Undetermined Significance (MGUS) in a Man with Fragile X-associated Tremor/Ataxia Syndrome
    Tanjung A Sumekar
    Medical Investigation of Neurodevelopmental Disorders MIND Institute, Davis Medical Center, University of California, 2825 50th Street, Sacramento, CA 95817, USA Division of Human Genetics, Center for Biomedical Research, Faculty of Medicine, Diponegoro University, Jalan Dr Sutomo No 14, Semarang 50321, Indonesia
    Case Rep Genet 2011:143132. 2011
  4. pmc Early intervention combined with targeted treatment promotes cognitive and behavioral improvements in young children with fragile x syndrome
    Tri Indah Winarni
    Medical Investigation of Neurodevelopmental Disorders MIND Institute, University of California at Davis Medical Center, Sacramento, CA 95817, USA Department of Pediatrics, University of California at Davis Medical Center, Sacramento, CA 95817, USA Center for Biomedical Research, Faculty of Medicine, Diponegoro University, Jl Dr Soetomo No 14, Central Java, Semarang 50231, Indonesia
    Case Rep Genet 2012:280813. 2012
  5. pmc Intranuclear inclusions in a fragile X mosaic male
    Dalyir I Pretto
    Department of Biochemistry and Molecular Medicine, School of Medicine, University of California at Davis, One Shields Avenue, Davis, CA, USA
    Transl Neurodegener 2:10. 2013
  6. pmc Autoimmune disease in mothers with the FMR1 premutation is associated with seizures in their children with fragile X syndrome
    Weerasak Chonchaiya
    Medical Investigation of Neurodevelopmental Disorders Institute, University of California Davis Health System, 2825 50th Street, Sacramento, CA 95817, USA
    Hum Genet 128:539-48. 2010
  7. pmc Neural progenitor cells from an adult patient with fragile X syndrome
    Philip H Schwartz
    National Human Neural Stem Cell Resource, Children s Hospital of Orange County Research Institute, Orange, CA, USA
    BMC Med Genet 6:2. 2005
  8. ncbi request reprint Lessons from fragile X regarding neurobiology, autism, and neurodegeneration
    Randi J Hagerman
    Department of Pediatrics, M I N D Institute, University of California Davis Health System, Sacramento, California 95817, USA
    J Dev Behav Pediatr 27:63-74. 2006
  9. ncbi request reprint Neuropathy as a presenting feature in fragile X-associated tremor/ataxia syndrome
    Randi J Hagerman
    Department of Pediatrics, University of California at Davis Medical Center, Sacramento, California 95817, USA
    Am J Med Genet A 143:2256-60. 2007
  10. pmc FMR1 premutation and full mutation molecular mechanisms related to autism
    Randi Hagerman
    Department of Pediatrics, University of California, Davis, School of Medicine, Sacramento, CA, USA
    J Neurodev Disord 3:211-24. 2011

Detail Information

Publications107 found, 100 shown here

  1. pmc Fragile x syndrome
    Yingratana McLennan
    Medical Investigation of Neurodevelopmental Disorders M I N D Institute, University of California Davis Health System, Sacramento, California, USA
    Curr Genomics 12:216-24. 2011
    ....
  2. pmc A Quantitative Assessment of Tremor and Ataxia in Female FMR1 Premutation Carriers Using CATSYS
    Vivien Narcisa
    Medical Investigation of Neurodevelopmental Disorders MIND Institute, University of California Davis Medical Center, 2825 50th Street, Sacramento, CA 95817, USA Department of Pediatrics, University of California Davis Medical Center, 2516 Stockton Boulevard, Sacramento, CA 95817, USA
    Curr Gerontol Geriatr Res 2011:484713. 2011
    ..Notably, there were no differences across groups in intention tremor. This is likely due to the milder symptoms in females compared to males with FXTAS...
  3. pmc Monoclonal Gammopathy of Undetermined Significance (MGUS) in a Man with Fragile X-associated Tremor/Ataxia Syndrome
    Tanjung A Sumekar
    Medical Investigation of Neurodevelopmental Disorders MIND Institute, Davis Medical Center, University of California, 2825 50th Street, Sacramento, CA 95817, USA Division of Human Genetics, Center for Biomedical Research, Faculty of Medicine, Diponegoro University, Jalan Dr Sutomo No 14, Semarang 50321, Indonesia
    Case Rep Genet 2011:143132. 2011
    ..Both MGUS and FXTAS are associated with microRNA (miRNA) dysregulation. We speculate that individuals with FXTAS may be predisposed to MGUS and further studies are warranted regarding this association...
  4. pmc Early intervention combined with targeted treatment promotes cognitive and behavioral improvements in young children with fragile x syndrome
    Tri Indah Winarni
    Medical Investigation of Neurodevelopmental Disorders MIND Institute, University of California at Davis Medical Center, Sacramento, CA 95817, USA Department of Pediatrics, University of California at Davis Medical Center, Sacramento, CA 95817, USA Center for Biomedical Research, Faculty of Medicine, Diponegoro University, Jl Dr Soetomo No 14, Central Java, Semarang 50231, Indonesia
    Case Rep Genet 2012:280813. 2012
    ..Here we report on 2 young children with FXS who were treated early with a combination of targeted treatment and intensive educational interventions leading to improvement in their cognition and behavior and a normal IQ...
  5. pmc Intranuclear inclusions in a fragile X mosaic male
    Dalyir I Pretto
    Department of Biochemistry and Molecular Medicine, School of Medicine, University of California at Davis, One Shields Avenue, Davis, CA, USA
    Transl Neurodegener 2:10. 2013
    ..In addition, based on symptoms and pathological and molecular evidence, this report suggests the need to redefine the diagnostic criteria of FXTAS...
  6. pmc Autoimmune disease in mothers with the FMR1 premutation is associated with seizures in their children with fragile X syndrome
    Weerasak Chonchaiya
    Medical Investigation of Neurodevelopmental Disorders Institute, University of California Davis Health System, 2825 50th Street, Sacramento, CA 95817, USA
    Hum Genet 128:539-48. 2010
    ..This suggests a potential new mechanism of seizure and tic exacerbation in FXS related to an intergenerational influence from autoimmunity in the carrier mother...
  7. pmc Neural progenitor cells from an adult patient with fragile X syndrome
    Philip H Schwartz
    National Human Neural Stem Cell Resource, Children s Hospital of Orange County Research Institute, Orange, CA, USA
    BMC Med Genet 6:2. 2005
    ..In this study, we sought to establish the use of immature neural cells derived from adult tissues as a novel model of fragile X syndrome that could be used to more fully understand the pathology of this neurogenetic disease...
  8. ncbi request reprint Lessons from fragile X regarding neurobiology, autism, and neurodegeneration
    Randi J Hagerman
    Department of Pediatrics, M I N D Institute, University of California Davis Health System, Sacramento, California 95817, USA
    J Dev Behav Pediatr 27:63-74. 2006
    ..The neurobiology and pathophysiology of FXS and FXTAS are described in detail...
  9. ncbi request reprint Neuropathy as a presenting feature in fragile X-associated tremor/ataxia syndrome
    Randi J Hagerman
    Department of Pediatrics, University of California at Davis Medical Center, Sacramento, California 95817, USA
    Am J Med Genet A 143:2256-60. 2007
    ....
  10. pmc FMR1 premutation and full mutation molecular mechanisms related to autism
    Randi Hagerman
    Department of Pediatrics, University of California, Davis, School of Medicine, Sacramento, CA, USA
    J Neurodev Disord 3:211-24. 2011
    ..Preliminary evidence suggests that these new targeted treatments will also be beneficial in non-fragile X forms of autism...
  11. ncbi request reprint The fragile X premutation: into the phenotypic fold
    Randi J Hagerman
    The MIND Institute and Department of Pediatrics, University of California, Davis, Medical Center, Sacramento, California 95817, USA
    Curr Opin Genet Dev 12:278-83. 2002
    ..Recent observations also provide direct evidence of dysregulation of the FMR1 gene in the premutation range, which may explain many of the clinical observations...
  12. pmc Neuropathologic features in the hippocampus and cerebellum of three older men with fragile X syndrome
    Claudia M Greco
    MIND Institute, University of California Davis Medical Center, Sacramento, CA, USA
    Mol Autism 2:2. 2011
    ..abstract:..
  13. pmc Autism profiles of males with fragile X syndrome
    Susan W Harris
    M I N D Institute and Department of Pediatrics, University of California at Davis Medical Center, Sacramento, CA 95817, USA
    Am J Ment Retard 113:427-38. 2008
    ....
  14. pmc Fragile X and autism: Intertwined at the molecular level leading to targeted treatments
    Randi Hagerman
    Department of Pediatrics, University of California, Davis, School of Medicine, Sacramento, California, USA
    Mol Autism 1:12. 2010
    ..Preliminary evidence suggests that these new targeted treatments will also be beneficial in non-fragile X forms of autism...
  15. pmc Fragile X syndrome and targeted treatment trials
    Randi Hagerman
    Department of Pediatrics, University of California, Sacramento, CA, USA
    Results Probl Cell Differ 54:297-335. 2012
    ....
  16. pmc Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation
    R J Hagerman
    Medical Investigation of Neurodevelopmental Disorders Institute, University of California Davis Medical Center, Sacramento, CA, 95817, USA
    Am J Hum Genet 74:1051-6. 2004
    ....
  17. ncbi request reprint Influence of stimulants on electrodermal studies in Fragile X syndrome
    Randi J Hagerman
    M I N D Institute, University of California Davis Health System, Sacramento, California 95817, USA
    Microsc Res Tech 57:168-73. 2002
    ..The use of a quantifiable measure, such as EDR, is recommended in future studies of treatment efficacy...
  18. ncbi request reprint [Fragile X syndrome: a model of gene-brain-behaviour relationships]
    R J Hagerman
    M I N D Institute and Department of Pediatrics, University of California, Davis Medical Center, Sacramento, California, USA
    Rev Neurol 33:S51-7. 2001
    ..Sequencing of the fragile X mental retardation 1 (FMR1) gene and the measurements of the gene product FMRP, have enabled protein quantification of variations within the FMR1 gene and FMRP-clinical correlations...
  19. pmc Advances in the treatment of fragile X syndrome
    Randi J Hagerman
    MIND Institute, University of California Davis, School of Medicine, Sacramento, CA 95817, USA
    Pediatrics 123:378-90. 2009
    ..Trials of metabotropic glutamate receptor 5 antagonists are beginning with individuals with fragile X syndrome. Targeted treatments, medical and behavioral interventions, genetic counseling, and family supports are reviewed here...
  20. pmc Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems
    Randi J Hagerman
    MIND Institute, University of California, Davis, School of Medicine, Sacramento, CA 95817, USA
    Clin Interv Aging 3:251-62. 2008
    ..The current review summarizes what is currently known regarding the symptomatic treatment, or potential for treatment, of FXTAS...
  21. ncbi request reprint Dementia with mood symptoms in a fragile X premutation carrier with the fragile X-associated tremor/ataxia syndrome: clinical intervention with donepezil and venlafaxine
    James A Bourgeois
    Department of Psychiatry and Behavioral Sciences, University of California, Davis, Medical Center, 2230 Stockton Blvd, Sacramento, 95817, USA
    J Neuropsychiatry Clin Neurosci 18:171-7. 2006
    ..Psychiatrists are hereby alerted to the description of a novel dementia syndrome that may respond to pharmacological intervention commonly used for other dementias...
  22. ncbi request reprint Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population
    Sebastien Jacquemont
    MIND Institute, University of California Davis Medical Center, Sacramento, USA
    JAMA 291:460-9. 2004
    ..Additional documented symptoms include short-term memory loss, executive functional deficits, cognitive decline, parkinsonism, peripheral neuropathy, lower-limb proximal muscle weakness, and autonomic dysfunction...
  23. pmc AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome
    Carolyn M Yrigollen
    Department of Biochemistry and Molecular Medicine, University of California Davis School of Medicine, Davis, California, USA
    Genet Med 14:729-36. 2012
    ..The presence of AGG interruptions within the CGG repeat tract is thought to decrease the likelihood of expansion to a full mutation during transmission, thereby reducing risk, although their contribution has not been quantified...
  24. ncbi request reprint Psychiatric phenotype of the fragile X-associated tremor/ataxia syndrome (FXTAS) in males: newly described fronto-subcortical dementia
    Susan Bacalman
    M I N D Institute, and Departments of Psychiatry and Behavioral Sciences, UCDavis Medical Center, University of California Davis, 2230 Stockton Boulevard, Sacramento, CA 95817, USA
    J Clin Psychiatry 67:87-94. 2006
    ..The authors describe and quantify the neuropsychiatric symptoms present in a cohort of males with the fragile X mental retardation 1 (FMR1) premutation allele who have developed fragile X-associated tremor/ataxia syndrome (FXTAS)...
  25. pmc Early onset of neurological symptoms in fragile X premutation carriers exposed to neurotoxins
    Ripon Paul
    MIND Institute, University of California, Davis, School of Medicine, Sacramento, CA 95817, USA
    Neurotoxicology 31:399-402. 2010
    ....
  26. ncbi request reprint A genetic etiology of pervasive developmental disorder guides treatment
    Marjorie Solomon
    Department of Psychiatry and Behavioral Sciences, MIND Institute, University of California, Davis, Sacramento, CA 95817, USA
    Am J Psychiatry 164:575-80. 2007
  27. pmc Abnormal nerve conduction features in fragile X premutation carriers
    Kultida Soontarapornchai
    M I N D Institute, University of California Davis Medical Center, Sacramento, CA 95817, USA
    Arch Neurol 65:495-8. 2008
    ..Distal neuropathy is part of the clinical phenotype in most males with the fragile X-associated tremor/ataxia syndrome (FXTAS) caused by the 55 to 200 CGG repeat expansion...
  28. pmc Abnormal N400 word repetition effects in fragile X-associated tremor/ataxia syndrome
    John M Olichney
    Department of Neurology, University of California Davis, Davis, CA 95618, USA
    Brain 133:1438-50. 2010
    ..Their more severe reduction in N400 repetition effect, than P600, is in contrast to the reverse pattern reported in amnestic mild cognitive impairment and incipient Alzheimer's disease (Olichney et al., 2008)...
  29. ncbi request reprint Autism spectrum disorders and attention-deficit/hyperactivity disorder in boys with the fragile X premutation
    Faraz Farzin
    Medical Investigation of Neurodevelopmental Disorders M I N D Institute, University of California, Davis, CA, USA
    J Dev Behav Pediatr 27:S137-44. 2006
    ..If the premutation is identified through cascade testing, then further assessment should be carried out for symptoms of ADHD, social deficits, or learning disabilities...
  30. pmc Expanded clinical phenotype of women with the FMR1 premutation
    Sarah M Coffey
    Department of Pediatrics, University of California at Davis Medical Center, Sacramento, California 95817, USA
    Am J Med Genet A 146:1009-16. 2008
    ..The remarkable degree of thyroid dysfunction (17% in the non-FXTAS group and 50% in the FXTAS group) warrants consideration of thyroid function studies in all female premutation carriers, particularly those with core features of FXTAS...
  31. ncbi request reprint Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction
    James A Brunberg
    Department of Radiology, University of California, Davis, School of Medicine, Sacramento, CA 95817, USA
    AJNR Am J Neuroradiol 23:1757-66. 2002
    ..Our purpose was to characterize the findings of MR imaging of the brain of adult male fragile X premutation carriers with a recently identified disorder characterized by ataxia, tremor, rigidity, and cognitive dysfunction...
  32. pmc Transmission of an FMR1 premutation allele in a large family identified through newborn screening: the role of AGG interruptions
    Carolyn M Yrigollen
    Department of Biochemistry and Molecular Medicine, University of California Davis, School of Medicine, Davis, CA, USA
    J Hum Genet 58:553-9. 2013
    ..The detection of AGG interruptions within the premutation alleles is important in genetic counseling, to better predict the risk of expansion during transmission from a premutation to a full-mutation allele. ..
  33. pmc Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome
    Randi Hagerman
    Department of Pediatrics and the MIND Institute, University of California, Davis, School of Medicine, Davis, CA, USA
    Lancet Neurol 12:786-98. 2013
    ....
  34. pmc Clinical report: a male with Down syndrome, fragile X syndrome, and autism
    Lindsay Stevens
    Lucile Packard Children s Hospital at Stanford, Palo Alto, CA, USA
    J Dev Behav Pediatr 31:333-7. 2010
    ..We emphasize discussion of challenges in his behavioral management and present a collaborative approach to behavioral management...
  35. pmc Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates
    Sebastien Jacquemont
    M I N D Institute, UC Davis Medical Center, 4860 Y Street, Suite 3020, Sacramento, CA 95817, USA
    Am J Hum Genet 72:869-78. 2003
    ....
  36. pmc Fibroblast phenotype in male carriers of FMR1 premutation alleles
    Dolores Garcia-Arocena
    Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, CA 95616, USA
    Hum Mol Genet 19:299-312. 2010
    ..Fibroblast studies may also prove useful in screening and testing the efficacy of therapeutic interventions...
  37. doi request reprint The fragile X-associated tremor ataxia syndrome
    Flora Tassone
    University of California, Sacramento, CA, USA
    Results Probl Cell Differ 54:337-57. 2012
    ..Finally, the presence of cellular dysregulation in older adults who do not present clinical features of FXTAS may suggest that additional genetic or environmental protective factors may play a role in the pathogenesis of FXTAS...
  38. ncbi request reprint Effect of CX516, an AMPA-modulating compound, on cognition and behavior in fragile X syndrome: a controlled trial
    Elizabeth Berry-Kravis
    Department of Pediatrics, Rush University Medical Center, Chicago, Illinois 60612, USA
    J Child Adolesc Psychopharmacol 16:525-40. 2006
    ....
  39. doi request reprint Electrocortical changes associated with minocycline treatment in fragile X syndrome
    Andrea Schneider
    1MIND Institute, University of California at Davis Medical Center, Sacramento, California, USA
    J Psychopharmacol 27:956-63. 2013
    ..Our study demonstrated improvements of the ERP in children with FXS treated with minocycline, and the potential feasibility and sensitivity of ERPs as a cognitive biomarker in FXS treatment trials. ..
  40. ncbi request reprint Early acceleration of head circumference in children with fragile x syndrome and autism
    Sufen Chiu
    Department of Psychiatry and Behavioral Sciences and MIND Institute, University of California Davis, Davis, CA 95817, USA
    J Dev Behav Pediatr 28:31-5. 2007
    ....
  41. pmc Fragile X: leading the way for targeted treatments in autism
    Lulu W Wang
    Department of Pediatrics, University of California, Davis, School of Medicine, Sacramento, California 95817, USA
    Neurotherapeutics 7:264-74. 2010
    ..In those with large premutations (150-200), lowered levels of FMRP also occur...
  42. pmc The fragile-X premutation: a maturing perspective
    Paul J Hagerman
    Department of Biochemistry and Molecular Medicine, University of California Davis, Davis, CA 95616, USA
    Am J Hum Genet 74:805-16. 2004
    ....
  43. pmc Dementia in fragile X-associated tremor/ataxia syndrome (FXTAS): comparison with Alzheimer's disease
    Andreea L Seritan
    Department of Psychiatry and Behavioral Sciences, University of California Davis, Sacramento, California 95817, USA
    Am J Med Genet B Neuropsychiatr Genet 147:1138-44. 2008
    ..Further research is needed to outline the neuropsychiatric profile in FXTAS and the correlation of genetic markers with the progression and severity of cognitive loss...
  44. pmc Conversion disorder in women with the FMR1 premutation
    Andreea L Seritan
    Department of Psychiatry and Behavioral Sciences, University of California Davis Medical Center, Sacramento, California, USA
    Am J Med Genet A 149:2501-6. 2009
    ..The FMR1 premutation with its associated mRNA toxicity is postulated as an underlying neurobiological mechanism of conversion symptoms, through functional and structural neural dysconnectivity...
  45. pmc Murine hippocampal neurons expressing Fmr1 gene premutations show early developmental deficits and late degeneration
    Yucui Chen
    Department of Molecular Biosciences, School of Veterinary Medicine, University of California, Davis, CA 95616, USA
    Hum Mol Genet 19:196-208. 2010
    ..The reduced viability of preCGG neurons is consistent with the mRNA toxicity and neurodegeneration associated with FXTAS...
  46. pmc Prepulse inhibition in fragile X syndrome: feasibility, reliability, and implications for treatment
    David Hessl
    Medical Investigation of Neurodevelopmental Disorders M I N D Institute, University of California Davis, Medical Center, Sacramento, California 95817, USA
    Am J Med Genet B Neuropsychiatr Genet 150:545-53. 2009
    ..89 overall). This study demonstrates the feasibility and reliability of PPI measurement in a developmentally disabled population and highlights its potential as an outcome measure to test the efficacy of targeted neurotherapeutic agents...
  47. pmc A review of fragile X premutation disorders: expanding the psychiatric perspective
    James A Bourgeois
    Department of Psychiatry and Behavioral Sciences, University of California Davis Medical Center, Sacramento, CA 95817, USA
    J Clin Psychiatry 70:852-62. 2009
    ..Remarkable advances at the molecular level have enhanced our understanding of fragile X premutation disorders...
  48. ncbi request reprint Fragile X-associated tremor/ataxia syndrome--an older face of the fragile X gene
    Paul J Hagerman
    Department of Biochemistry and Molecular Medicine, University of California Davis School of Medicine, Davis, CA 95616, USA
    Nat Clin Pract Neurol 3:107-12. 2007
    ..His medical history was otherwise unremarkable. Three of his grandchildren had been diagnosed with fragile X syndrome...
  49. doi request reprint Fragile X syndrome with anxiety disorder and exceptional verbal intelligence
    Kathleen Angkustsiri
    M I N D Institute, University of California Davis Medical Center, Sacramento, California 95817, USA
    Am J Med Genet A 146:376-9. 2008
    ..Women with FXS can present primarily with learning and emotional problems, and clinicians should consider FXS in these women regardless of their IQ...
  50. ncbi request reprint Autistic spectrum disorder and the fragile X premutation
    Beth L Goodlin-Jones
    M I N D Institute, Department of Psychiatry and Behavioral Sciences, UCDHS, Sacramento, California 95817, USA
    J Dev Behav Pediatr 25:392-8. 2004
    ..Discussion includes the impact of molecular variables including lowered FMR1 protein and elevated FMR1 mRNA in addition to environmental factors leading to the complex neurodevelopmental disorder of ASD...
  51. ncbi request reprint Brief report: aggression and stereotypic behavior in males with fragile X syndrome--moderating secondary genes in a "single gene" disorder
    David Hessl
    Medical Investigation of Neurodevelopmental Disorders MIND Institute, University of California Davis, Medical Center, 2825 50th Street, Sacramento, CA 95817, USA
    J Autism Dev Disord 38:184-9. 2008
    ..This preliminary study prompts consideration of secondary genes that may modify behavioral phenotype expression in neurodevelopmental disorders, even those with a single gene etiology such as FXS...
  52. ncbi request reprint Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation
    David Hessl
    Medical Investigation of Neurodevelopmental Disorders Institute, University of California Davis Medical Center, Sacramento, CA 95817, USA
    Am J Med Genet B Neuropsychiatr Genet 139:115-21. 2005
    ....
  53. ncbi request reprint CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremor/ataxia syndrome (FXTAS)
    Flora Tassone
    Department of Biochemistry and Molecular Medicine, University of California, School of Medicine, Davis, California 95616, USA
    Am J Med Genet B Neuropsychiatr Genet 144:566-9. 2007
    ..001) and ataxia (P = 0.002), as well as overall onset (P < 0.0001). Our findings indicate that the CGG repeat number is a potential predictor of the age of onset of core motor features of FXTAS...
  54. ncbi request reprint Amygdala dysfunction in men with the fragile X premutation
    David Hessl
    Medical Investigation of Neurodevelopmental Disorders MIND Institute, University of California Davis, Medical Center, Sacramento, CA 95817, USA
    Brain 130:404-16. 2007
    ..The aetiology for this dysfunction may be elevated FMR1 mRNA or reduced FMR1 protein that occurs in carriers with higher premutation CGG repeat alleles...
  55. pmc A voxel-based morphometry study of grey matter loss in fragile X-associated tremor/ataxia syndrome
    Ryu ichiro Hashimoto
    Center for Mind and Brain, University of California Davis, 267 Cousteau Place, Davis, CA 95618 5412, USA
    Brain 134:863-78. 2011
    ....
  56. pmc Cognitive, anxiety and mood disorders in the fragile X-associated tremor/ataxia syndrome
    James A Bourgeois
    Department of Psychiatry and Behavioral Sciences, School of Medicine, University of California Davis, Sacramento, CA 95817, USA
    Gen Hosp Psychiatry 29:349-56. 2007
    ..We evaluated patients with fragile X-associated tremor/ataxia syndrome (FXTAS), a neurodegenerative disorder associated with a CGG repeat expansion in the premutation range in the fragile X mental retardation 1 (FMR1) gene...
  57. ncbi request reprint Fragile X-associated tremor/ataxia syndrome (FXTAS)
    Paul J Hagerman
    Department of Biological Chemistry, University of California, Davis, School of Medicine, Davis, California 95616, USA
    Ment Retard Dev Disabil Res Rev 10:25-30. 2004
    ..One of the critical needs at present is a better estimate for the prevalence of this disorder, because FXTAS is likely to be underdiagnosed in the adult movement disorders clinics...
  58. ncbi request reprint Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines
    Elizabeth Berry-Kravis
    Department of Pediatrics, Rush University Medical Center, Chicago, Illinois 60612, USA
    Mov Disord 22:2018-30, quiz 2140. 2007
    ..We also provide guidelines for the practitioner to assist with identifying appropriate patients for DNA testing for FXTAS, as well as recommendations for genetic counseling once a diagnosis of FXTAS is made...
  59. pmc CGG allele size somatic mosaicism and methylation in FMR1 premutation alleles
    Dalyir I Pretto
    Department of Biochemistry and Molecular Medicine, University of California Davis, School of Medicine, Sacramento, California, USA
    J Med Genet 51:309-18. 2014
    ..Individual carriers of a premutation (PM) allele with 55-200 CGG repeats are typically unmethylated and can present with clinical features defined as FMR1-associated conditions...
  60. pmc Immune Dysregulation as a Cause of Autoinflammation in Fragile X Premutation Carriers: Link between FMRI CGG Repeat Number and Decreased Cytokine Responses
    Milo Careaga
    Department of Medical Microbiology and Immunology, University of California Davis, Davis, California, United States of America The M I N D Institute, University of California Davis, Davis, California, United States of America
    PLoS ONE 9:e94475. 2014
    ..In addition, splenocyte responses were examined in an FMR1 CGG knock-in mouse model of the fragile X premutation...
  61. pmc Broad clinical involvement in a family affected by the fragile X premutation
    Weerasak Chonchaiya
    M I N D Institute, University of California Davis Medical Center, Sacramento, CA, USA
    J Dev Behav Pediatr 30:544-51. 2009
    ..To facilitate the integration of this knowledge into clinical practice, this is the first case report that demonstrates only premutation involvement across 3 generations...
  62. ncbi request reprint Association between macroorchidism and intelligence in FMR1 premutation carriers
    Reymundo Lozano
    Medical Investigation of Neurodevelopmental Disorders MIND Institute, UC Davis Medical Center, Sacramento, California Departments of Pediatrics, UC Davis Medical Center, Sacramento, California
    Am J Med Genet A 164:2206-11. 2014
    ..Whether this is due to higher levels of FMR1 mRNA or to lower FMRP levels it remains to be established. © 2014 Wiley Periodicals, Inc. ..
  63. pmc Psychiatric symptoms in boys with fragile X syndrome: a comparison with nonsyndromic autism spectrum disorder
    Angela John Thurman
    MIND Institute, University of California, Davis, United States Department of Psychiatry and Behavioral Sciences, University of California, Davis, United States Electronic address
    Res Dev Disabil 35:1072-86. 2014
    ..Theoretical and treatment implications are discussed...
  64. pmc Investigating word learning in fragile X syndrome: a fast-mapping study
    Andrea McDuffie
    MIND Institute, University of California, Davis, 2825 50th Street, Sacramento, CA 95864, USA
    J Autism Dev Disord 43:1676-91. 2013
    ..Understanding the fast-mapping process has implications for designing interventions to support word learning and language acquisition in these populations...
  65. pmc A new look at XXYY syndrome: medical and psychological features
    Nicole Tartaglia
    Department of Pediatrics, University of Colorado Denver, School of Medicine, Aurora, Colorado, USA
    Am J Med Genet A 146:1509-22. 2008
    ..2%), autism spectrum disorders (28.3%), mood disorders (46.8%), and tic disorders (18.9%), were elevated with 55.9% on psychopharmacologic medication overall. Recommendations for evaluation and treatment are summarized...
  66. pmc Altered zinc transport disrupts mitochondrial protein processing/import in fragile X-associated tremor/ataxia syndrome
    Eleonora Napoli
    Department of Molecular Biosciences, School of Veterinary Medicine, School of Medicine, University of California Davis, Davis, CA 95616, USA
    Hum Mol Genet 20:3079-92. 2011
    ..In support of this hypothesis, Zn-treated fibroblasts showed a significant recovery of ATPB P:M, ATPase activity and doubling time, whereas Zn and desferrioxamine extended these recoveries and rescued Complex IV activity...
  67. ncbi request reprint A quantitative assessment of tremor and ataxia in FMR1 premutation carriers using CATSYS
    Dalila Aguilar
    Medical Investigation of Neurodevelopmental Disorders MIND Institute, University of California Davis Medical Center, Sacramento, California 95817, USA
    Am J Med Genet A 146:629-35. 2008
    ..0016). These results demonstrate that the quantitative measures of the CATSYS system can document significant differences in intention tremor and postural sway in patients with FXTAS compared to controls...
  68. pmc High-risk fragile x screening in Guatemala: use of a new blood spot polymerase chain reaction technique
    Jennifer Yuhas
    M I N D Institute, University of California Davis Medical Center, Sacramento, California, USA
    Genet Test Mol Biomarkers 13:855-9. 2009
    ..It is accurate, rapid, inexpensive, and applicable on blood spots and therefore ideal for international screening. The use of this blood spot screening technique was piloted in "a high-risk screening" study of individuals in Guatemala...
  69. ncbi request reprint The Prader-Willi phenotype of fragile X syndrome
    Stephen T Nowicki
    Department of Pediatrics, University of California at Davis Medical Center, Sacramento, California 95817, USA
    J Dev Behav Pediatr 28:133-8. 2007
    ..CYFIP mRNA levels were significantly reduced in our patients with the PWP and FXS compared to individuals without FXS (p < .001) and also individuals with FXS without PWP (p = .03)...
  70. pmc Plasma cytokine profiles in Fragile X subjects: is there a role for cytokines in the pathogenesis?
    Paul Ashwood
    Department of Medical Microbiology and Immunology, University of California, School of Medicine, Davis, CA 95616, USA
    Brain Behav Immun 24:898-902. 2010
    ..Altered immune responses have been described in autism and there is potential that in children with FXS and autism, an abnormal immune response may play a role...
  71. pmc Evidence of mitochondrial dysfunction in fragile X-associated tremor/ataxia syndrome
    Catherine Ross-Inta
    Department of Molecular Biosciences, University of California Davis, 95616, USA
    Biochem J 429:545-52. 2010
    ..Detection of MD is of critical importance to the management of FXTAS, since it opens up additional treatment options for this disorder...
  72. pmc The efficacy of melatonin for sleep problems in children with autism, fragile X syndrome, or autism and fragile X syndrome
    Juthamas Wirojanan
    Medical Investigation of Neurodevelopmental Disorders M I N D Institute, University of California Davis Health System, Sacramento, CA 95817, USA
    J Clin Sleep Med 5:145-50. 2009
    ..To determine the efficacy of melatonin on sleep problems in children with autistic spectrum disorder (ASD) and fragile X syndrome (FXS)...
  73. ncbi request reprint Testicular and pituitary inclusion formation in fragile X associated tremor/ataxia syndrome
    Claudia M Greco
    Department of Pathology, University of California Davis School of Medicine, Sacramento, California 95817, USA
    J Urol 177:1434-7. 2007
    ..Clinical manifestations of premutation status are distinct from those of the full mutation, which is the cause of the fragile X syndrome...
  74. doi request reprint Two boys with fragile x syndrome and hepatic tumors
    Juthamas Wirojanan
    Medical Investigation of Neurodevelopmental Disorders, University of California Davis Health System, Sacramento, CA 95817, USA
    J Pediatr Hematol Oncol 30:239-41. 2008
    ..We speculate regarding molecular pathways that might explain the cooccurrence of the 2 conditions. Further examination of a possible functional link between hepatic neoplasia and loss of FMRP is warranted...
  75. pmc A quantitative ELISA assay for the fragile x mental retardation 1 protein
    Christine Iwahashi
    Department of Biochemistry and Molecular Medicine, UC Davis, School of Medicine, Davis, CA 95616, USA
    J Mol Diagn 11:281-9. 2009
    ..The FMRP ELISA is potentially a powerful tool in expanding our understanding of the relationship between FMRP levels and the various FMR1-associated clinical phenotypes...
  76. pmc Side effects of minocycline treatment in patients with fragile X syndrome and exploration of outcome measures
    Agustini Utari
    M I N D Institute, University of California at Davis Medical Center, USA
    Am J Intellect Dev Disabil 115:433-43. 2010
    ..As with any other treatments, we emphasize that randomized clinical trials are needed to determine the efficacy of minocycline in fragile X syndrome...
  77. pmc Clinical and neuropathologic findings in a woman with the FMR1 premutation and multiple sclerosis
    Claudia M Greco
    Department of Pathology, University of California, Davis, Health System, Sacramento, CA 95817, USA
    Arch Neurol 65:1114-6. 2008
    ..Multiple sclerosis (MS) and fragile X-associated tremor/ataxia syndrome (FXTAS) have overlapping clinical signs and symptoms...
  78. doi request reprint A girl with fragile X premutation from sperm donation
    Juthamas Wirojanan
    MIND Institute, University of California Davis Medical Center, Sacramento, California 95817, USA
    Am J Med Genet A 146:888-92. 2008
    ..We suggest fragile X DNA screening in gamete donor candidates to decrease the chance of fragile X involvement in their offspring...
  79. pmc Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back
    Katherine A Rauen
    University of California San Francisco, San Francisco, California, USA
    Am J Med Genet A 152:4-24. 2010
    ....
  80. ncbi request reprint The fragile X premutation presenting as essential tremor
    Maureen A Leehey
    Department of Neurology, University of Colorado Health Science Center, Denver, CO 80262, USA
    Arch Neurol 60:117-21. 2003
    ..Essential tremor is a frequent cause of tremor in elderly patients and in some cases is associated with impaired tandem gait and cognitive deficits...
  81. ncbi request reprint Cognitive impairment in a 65-year-old male with the fragile X-associated tremor-ataxia syndrome (FXTAS)
    Jim Grigsby
    Department of Medicine, University of Colorado Health Sciences Center, Aurora, CO 80045 5701, USA
    Cogn Behav Neurol 19:165-71. 2006
    ..This is the first case report of a comprehensive neuropsychologic examination of an older man with the fragile X-associated tremor-ataxia syndrome (FXTAS)...
  82. pmc Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats
    Danuta Z Loesch
    School of Psychological Science, La Trobe University, Melbourne, Victoria 3086, Australia
    J Med Genet 44:200-4. 2007
    ..Those alleles with a CGG repeat number ranging between approximately 41 and 55 are relatively poorly defined with regard to both transcriptional and translational activity, and also potential phenotypic effects...
  83. ncbi request reprint Impairment in the cognitive functioning of men with fragile X-associated tremor/ataxia syndrome (FXTAS)
    Jim Grigsby
    Department of Medicine, University of Colorado Health Sciences Center, Aurora, CO 80045, USA
    J Neurol Sci 248:227-33. 2006
    ..The results provide evidence that FXTAS involves marked impairment of executive cognitive abilities...
  84. ncbi request reprint Symptomatic treatment in the fragile X-associated tremor/ataxia syndrome
    Deborah A Hall
    Department of Neurology, University of Colorado Health Sciences Center at Denver, Denver, Colorado 80262, USA
    Mov Disord 21:1741-4. 2006
    ..This study suggests that patients with FXTAS can derive improvement from medication treatment for some of their symptoms...
  85. pmc Size bias of fragile X premutation alleles in late-onset movement disorders
    Sebastien Jacquemont
    Service de Genetique, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
    J Med Genet 43:804-9. 2006
    ..However, the prevalence of FXTAS within other diagnostic categories is not well defined...
  86. ncbi request reprint GRAND ROUNDS: an atypical progressive dementia in a male carrier of the fragile X premutation: an example of fragile X-associated tremor/ataxia syndrome
    Philip K Mothersead
    Neuropsychology and Rehabilitation, St John s Health Center, Springfield, Missouri 65804 2263, USA
    Appl Neuropsychol 12:169-78. 2005
    ..Pathological findings showed diagnostic features of both FXTAS and Alzheimer's disease, which might help to explain the rapid progression of his dementia...
  87. ncbi request reprint The effect of pre-mutation of X chromosome CGG trinucleotide repeats on brain anatomy
    Caroline J Moore
    Division of Psychological Medicine, Department of Neurology, Institute of Psychiatry, King s College London, DeCrespigny Park, UK
    Brain 127:2672-81. 2004
    ..Moreover, our findings suggest, for the first time, an association between voxel density reduction and genetic variation in FraX...
  88. ncbi request reprint A neuropsychological investigation of male premutation carriers of fragile X syndrome
    Caroline J Moore
    Division of Psychological Medicine, Section of Brain Maturation, Institute of Psychiatry, King s College London, DeCrespigny Park, London, UK
    Neuropsychologia 42:1934-47. 2004
    ....
  89. ncbi request reprint Phenotypic variation and FMRP levels in fragile X
    Danuta Z Loesch
    School of Psychological Science, La Trobe University, Melbourne, Australia
    Ment Retard Dev Disabil Res Rev 10:31-41. 2004
    ..It is recommended that further studies should rely on more accurate measures of FMRP levels, and use of larger samples, to overcome extensive variability in the data...
  90. ncbi request reprint Effect of the fragile X status categories and the fragile X mental retardation protein levels on executive functioning in males and females with fragile X
    Danuta Z Loesch
    School of Psychological Science, La Trobe University, Melbourne, Victoria, Australia
    Neuropsychology 17:646-57. 2003
    ..The other executive function deficits were accounted for by the general cognitive impairment. Possible mechanisms of the effect of fragile X premutation on impairments of executive functioning are considered...
  91. ncbi request reprint Paternal transmission of fragile X syndrome
    Susan Zeesman
    Department of Pediatrics, McMaster University, Hamilton, Ontario
    Am J Med Genet A 129:184-9. 2004
    ..Since his daughter has both premutation and full mutation alleles the expansion to full mutation in this case must have occurred postzygotically...
  92. ncbi request reprint The FMR1 premutation and reproduction
    Michael D Wittenberger
    Intramural Research Program, Section on Women s Health Research, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892 1103, USA
    Fertil Steril 87:456-65. 2007
    ..It is now recognized that this was incorrect, specifically with respect to female reproduction...
  93. pmc Secondary medical diagnosis in fragile X syndrome with and without autism spectrum disorder
    Catalina García-Nonell
    PSYNCRON, Barcelona, Spain
    Am J Med Genet A 146:1911-6. 2008
    ..05). Medical problems that affect the CNS are more likely to occur in those with FXS + ASD and it is probable that additional brain dysfunction associated with these medical problems enhance the risk of autism in those with FXS...
  94. pmc Reduced telomere length in older men with premutation alleles of the fragile X mental retardation 1 gene
    Edmund C Jenkins
    Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York 10314, USA
    Am J Med Genet A 146:1543-6. 2008
    ..Thus, telomere shortening may serve as a biomarker for cellular dysregulation that may precede the development of the symptoms of FXTAS...
  95. doi request reprint Age-dependent cognitive changes in carriers of the fragile X syndrome
    Kim M Cornish
    Neuroscience Laboratory for Research and Education in Developmental Disorders, McGill University, Montreal, Canada
    Cortex 44:628-36. 2008
    ....
  96. doi request reprint Cognitive profile of fragile X premutation carriers with and without fragile X-associated tremor/ataxia syndrome
    Jim Grigsby
    Department of Medicine, University of Colorado at Denver and Health Sciences Center, Aurora, CO 80045 5701, USA
    Neuropsychology 22:48-60. 2008
    ..Longitudinal research currently underway will provide insight into the progression of the disorder...
  97. doi request reprint Fragile X-associated tremor/ataxia syndrome: an aging face of the fragile X gene
    Khaled Amiri
    Department of Biology, College of Sciences, United Arab Emirates University, Al Ain, United Arab Emirates
    Arch Neurol 65:19-25. 2008
  98. pmc Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations
    Beatrice Primerano
    Dipartimento di Biologia, Universita di Roma Tor Vergata, 00133 Roma, Italy
    RNA 8:1482-8. 2002
    ..The impairment of FMR1 mRNA translation in patients with the Fragile X syndrome with FMR1 premutation is the cause of the lower FMRP levels that leads to the clinical involvement...
  99. ncbi request reprint Recommendations from multi-disciplinary focus groups on cascade testing and genetic counseling for fragile X-associated disorders
    Allyn McConkie-Rosell
    Duke University Medical Center, Durham, NC, USA
    J Genet Couns 16:593-606. 2007
    ....

Research Grants11

  1. Genotype-Phenotype Relationships in Fragile X Families
    Randi Hagerman; Fiscal Year: 2001
    ..D., including the serotonin receptor (5-HTT), and the GABA receptor (GABRB3) which are associated with autism, and ApoE and tau haplotypes associated with neurodegeneration. ..
  2. Genotype-Phenotype Relationships in Fragile X Families
    Randi Hagerman; Fiscal Year: 2009
    ....
  3. Genotype-Phenotype Relationships in Fragile X Families
    Randi Hagerman; Fiscal Year: 2007
    ....
  4. Genotype-Phenotype Relationships in Fragile X Families
    Randi Hagerman; Fiscal Year: 2005
    ..D., including the serotonin receptor (5-HTT), and the GABA receptor (GABRB3) which are associated with autism, and ApoE and tau haplotypes associated with neurodegeneration. ..
  5. Genotype-Phenotype Relationships in Fragile X Families
    Randi Hagerman; Fiscal Year: 2004
    ..D., including the serotonin receptor (5-HTT), and the GABA receptor (GABRB3) which are associated with autism, and ApoE and tau haplotypes associated with neurodegeneration. ..
  6. Genotype-Phenotype Relationships in Fragile X Families
    Randi Hagerman; Fiscal Year: 2003
    ..D., including the serotonin receptor (5-HTT), and the GABA receptor (GABRB3) which are associated with autism, and ApoE and tau haplotypes associated with neurodegeneration. ..
  7. Genotype-Phenotype Relationships in Fragile X Families
    Randi Hagerman; Fiscal Year: 2002
    ..D., including the serotonin receptor (5-HTT), and the GABA receptor (GABRB3) which are associated with autism, and ApoE and tau haplotypes associated with neurodegeneration. ..
  8. Genotype-Phenotype Relationships in Fragile X Families
    Randi J Hagerman; Fiscal Year: 2010
    ....