Paul Hagerman

Summary

Affiliation: University of California
Country: USA

Publications

  1. pmc Core flexibility of a truncated metazoan mitochondrial tRNA
    Ashley A Frazer-Abel
    National Jewish Health, Denver, CO 80206, USA
    Nucleic Acids Res 36:5472-81. 2008
  2. pmc Translation of the FMR1 mRNA is not influenced by AGG interruptions
    Anna L Ludwig
    Department of Biochemistry and Molecular Medicine, School of Medicine, University of California Davis, 4303 Tupper Hall, Davis, CA 95616, USA
    Nucleic Acids Res 37:6896-904. 2009
  3. pmc Transcription-associated R-loop formation across the human FMR1 CGG-repeat region
    Erick W Loomis
    Department of Biochemistry and Molecular Medicine, University of California, Davis, School of Medicine, Davis, California, United States of America
    PLoS Genet 10:e1004294. 2014
  4. 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
  5. pmc Fragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms
    Paul Hagerman
    Department of Biochemistry and Molecular Medicine, and the MIND Institute, University of California, Davis, Health System, 4303 Tupper Hall, One Shields Ave, Davis, CA 95616, USA
    Acta Neuropathol 126:1-19. 2013
  6. 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
  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. 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
  9. pmc The fragile X prevalence paradox
    Paul J Hagerman
    Department of Biochemistry and Molecular Medicine, University of California, Davis, School of Medicine, 4303 Tupper Hall, One Shields Ave, Davis, California 95616, USA
    J Med Genet 45:498-9. 2008
  10. 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

Research Grants

  1. Fragile X-associated Tremor/Ataxia Syndrome
    Paul Hagerman; Fiscal Year: 2007
  2. Neurological Phenotype in FMR1 Premutation Carriers
    Paul Hagerman; Fiscal Year: 2002
  3. Expression of the Fragile X Gene
    Paul Hagerman; Fiscal Year: 2003
  4. Neurological Phenotype in FMR1 Premutation Carriers
    Paul Hagerman; Fiscal Year: 2004
  5. Expression of the Fragile X Gene
    Paul Hagerman; Fiscal Year: 2004
  6. Expression of the Fragile X Gene
    Paul Hagerman; Fiscal Year: 2009
  7. Fragile X-associated Tremor/Ataxia Syndrome
    Paul Hagerman; Fiscal Year: 2009
  8. Expression of the Fragile X Gene
    Paul J Hagerman; Fiscal Year: 2010
  9. PROTEIN NUCLEIC ACID INTERACTIONS
    Paul Hagerman; Fiscal Year: 2001
  10. Expression of the Fragile X Gene
    Paul J Hagerman; Fiscal Year: 2011

Collaborators

Detail Information

Publications72

  1. pmc Core flexibility of a truncated metazoan mitochondrial tRNA
    Ashley A Frazer-Abel
    National Jewish Health, Denver, CO 80206, USA
    Nucleic Acids Res 36:5472-81. 2008
    ..These results suggest that increased flexibility, in addition to a more open interstem angle, would allow both noncanonical and canonical mtRNAs to utilize the same protein synthetic apparatus...
  2. pmc Translation of the FMR1 mRNA is not influenced by AGG interruptions
    Anna L Ludwig
    Department of Biochemistry and Molecular Medicine, School of Medicine, University of California Davis, 4303 Tupper Hall, Davis, CA 95616, USA
    Nucleic Acids Res 37:6896-904. 2009
    ....
  3. pmc Transcription-associated R-loop formation across the human FMR1 CGG-repeat region
    Erick W Loomis
    Department of Biochemistry and Molecular Medicine, University of California, Davis, School of Medicine, Davis, California, United States of America
    PLoS Genet 10:e1004294. 2014
    ..These observations introduce a new molecular feature of the FMR1 gene that is directly affected by CGG-repeat expansion and is likely to be involved in the associated cellular dysfunction...
  4. 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...
  5. pmc Fragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms
    Paul Hagerman
    Department of Biochemistry and Molecular Medicine, and the MIND Institute, University of California, Davis, Health System, 4303 Tupper Hall, One Shields Ave, Davis, CA 95616, USA
    Acta Neuropathol 126:1-19. 2013
    ..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. ..
  6. 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:..
  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. 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
    ....
  9. pmc The fragile X prevalence paradox
    Paul J Hagerman
    Department of Biochemistry and Molecular Medicine, University of California, Davis, School of Medicine, 4303 Tupper Hall, One Shields Ave, Davis, California 95616, USA
    J Med Genet 45:498-9. 2008
  10. 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...
  11. 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...
  12. ncbi request reprint A cerebellar tremor/ataxia syndrome among fragile X premutation carriers
    P J Hagerman
    Department of Biological Chemistry, University of California School of Medicine, Davis, CA 95616, USA
    Cytogenet Genome Res 100:206-12. 2003
    ..Finally, since this syndrome may represent one of the more common single-gene causes of tremor, ataxia, and dementia among older males, FMR1 DNA testing should be considered when evaluating adult patients with tremor/ataxia...
  13. ncbi request reprint Screen for excess FMR1 premutation alleles among males with parkinsonism
    Jeremy Kraff
    Department of Biochemistry and Molecular Medicine, University of California, Davis, School of Medicine, One Shields Avenue, Davis, CA 95616, USA
    Arch Neurol 64:1002-6. 2007
    ..Parkinson disease populations may thus include individuals who harbor premutation expansions (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene...
  14. 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...
  15. 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...
  16. ncbi request reprint Distribution of CGG repeat sizes within the fragile X mental retardation 1 (FMR1) homologue in a non-human primate population
    Dolores Garcia Arocena
    Department of Biological Chemistry, University of California Davis School of Medicine, One Shields Avenue, Davis, California, USA
    Hum Genet 113:371-6. 2003
    ..Two animals carried borderline premutation alleles with 54 CGG repeats, within the region of marginal instability for humans. Thus, M. mulatta may be useful as an animal model for the study of fragile X syndrome...
  17. 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...
  18. 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
    ....
  19. ncbi request reprint Redistribution of transcription start sites within the FMR1 promoter region with expansion of the downstream CGG-repeat element
    Alexandra Beilina
    Department of Biological Chemistry, University of California, Davis, School of Medicine, Davis, CA 95616, USA
    Hum Mol Genet 13:543-9. 2004
    ..Furthermore, the correspondence between start site utilization and the degree of elevation of FMR1 mRNA suggests that a substantial fraction of the increased message in the premutation range may derive from the upstream start sites...
  20. 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
    ....
  21. pmc Elevated FMR1 mRNA in premutation carriers is due to increased transcription
    Flora Tassone
    Department of Biochemistry and Molecular Medicine, University of California Davis, School of Medicine, Davis, CA 95616, USA
    RNA 13:555-62. 2007
    ..Finally, we have demonstrated that AGG interruptions within the CGG repeat element do not influence FMR1 mRNA levels...
  22. 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
    ....
  23. pmc A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations
    Flora Tassone
    Department of Biochemistry and Molecular Medicine, University of California, Davis, School of Medicine, Davis, California 95616, USA
    J Mol Diagn 10:43-9. 2008
    ..The test described herein costs less than $5 per sample for materials; with suitable scale-up and automation, the cost should approach $1 per sample...
  24. 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...
  25. 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...
  26. pmc Polymerase chain reaction, nuclease digestion, and mass spectrometry based assay for the trinucleotide repeat status of the fragile X mental retardation 1 gene
    Eric D Dodds
    Department of Chemistry, University of California Davis, One Shields Avenue, Davis, California 95616, USA
    Anal Chem 81:5533-40. 2009
    ..Moreover, this analytical scheme establishes a unique new intersection of MS with molecular biology, with potential for significant interdisciplinary impact...
  27. 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...
  28. 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...
  29. 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...
  30. ncbi request reprint Screen for expanded FMR1 alleles in patients with essential tremor
    Dolores Garcia Arocena
    Department of Biological Chemistry, University of California, Davis, School of Medicine, Davis, California 95616, USA
    Mov Disord 19:930-3. 2004
    ..Screening of movement disorder patients with other clinical features of FXTAS (e.g., ataxia and parkinsonism) may be more likely to yield expanded FMR1 alleles...
  31. 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
    ....
  32. 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...
  33. ncbi request reprint Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells
    Dolores Garcia Arocena
    Department of Biochemistry and Molecular Medicine, University of California Davis, School of Medicine, Davis, CA 95616, USA
    Hum Mol Genet 14:3661-71. 2005
    ....
  34. ncbi request reprint The (CGG)n repeat element within the 5' untranslated region of the FMR1 message provides both positive and negative cis effects on in vivo translation of a downstream reporter
    Li sheng Chen
    Department of Biological Chemistry, University of California, Davis School of Medicine, Davis, CA 95616, USA
    Hum Mol Genet 12:3067-74. 2003
    ..Interestingly, optimal translation appears to occur near the modal repeat number within the general human population...
  35. ncbi request reprint FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS)
    Flora Tassone
    Department of Biochemistry and Molecular Medicine, University of California, Davis School of Medicine, Davis, California 95616, USA
    RNA Biol 1:103-5. 2004
    ..Consistent with this model, we have now identified FMR1 mRNA within the intranuclear inclusions isolated from post-mortem (FXTAS) brain tissue...
  36. 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...
  37. pmc Screening for expanded alleles of the FMR1 gene in blood spots from newborn males in a Spanish population
    Isabel Fernandez-Carvajal
    Department of Biochemistry and Molecular Medicine, University of California, Davis, School of Medicine, Davis, CA 95616, USA
    J Mol Diagn 11:324-9. 2009
    ....
  38. ncbi request reprint Secondary structure and dynamics of the r(CGG) repeat in the mRNA of the fragile X mental retardation 1 (FMR1) gene
    Marta Zumwalt
    Department of Chemistry, School of Medicine, University of California at Davis, Davis, California, USA
    RNA Biol 4:93-100. 2007
    ..While the AGG repeat lowers the Tm of the hairpin at low Mg2+ concentrations, this difference disappears at physiological Mg2+ levels...
  39. 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...
  40. 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
    ....
  41. 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...
  42. 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...
  43. pmc Advances in understanding the molecular basis of FXTAS
    Dolores Garcia-Arocena
    Department of Biochemistry and Molecular Medicine, University of California, Davis, CA, USA
    Hum Mol Genet 19:R83-9. 2010
    ....
  44. 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...
  45. 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...
  46. 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...
  47. 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...
  48. 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...
  49. ncbi request reprint Neuropathic features in fragile X premutation carriers
    Elizabeth Berry-Kravis
    Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois, USA
    Am J Med Genet A 143:19-26. 2007
    ..These data suggest that neuropathic signs are associated with the fragile X premutation, presumably occurring through the same mechanism proposed for CNS disease, namely, toxicity from expanded-CGG-repeat FMR1 mRNA...
  50. 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)...
  51. ncbi request reprint Progression of tremor and ataxia in male carriers of the FMR1 premutation
    Maureen A Leehey
    Department of Neurology, University of Colorado at Denver and Health Sciences Center, Denver, Colorado 80262, USA
    Mov Disord 22:203-6. 2007
    ..Preliminary data on life expectancy are variable, with a range from 5 to 25 years...
  52. ncbi request reprint Impairment of executive cognitive functioning in males with 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
    Mov Disord 22:645-50. 2007
    ....
  53. ncbi request reprint Fragile X syndrome vs fragile X-associated tremor/ataxia syndrome
    Maureen A Leehey
    Arch Neurol 64:289; author reply 289-90. 2007
  54. ncbi request reprint The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome
    Rob Willemsen
    CBG Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
    Hum Mol Genet 12:949-59. 2003
    ..This mouse model will facilitate the possibilities to perform studies at the molecular level from onset of symptoms until the final stage of the disease...
  55. 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
    ....
  56. 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...
  57. 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...
  58. ncbi request reprint Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1
    Sebastien Jacquemont
    Service de Genetique, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
    Lancet Neurol 6:45-55. 2007
    ..A similar mechanism is probably involved in premature ovarian failure, which affects up to 20% of female carriers of an altered FMR1 gene...
  59. 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
    ....
  60. 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...
  61. 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...
  62. 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...
  63. 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...
  64. 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
  65. 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...
  66. 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...
  67. 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...
  68. 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
    ....
  69. ncbi request reprint X inactivation and cellular mosaicism
    Randi J Hagerman
    JAMA 296:930-1; author reply 931. 2006
  70. ncbi request reprint The mitochondrial genome of Acropora tenuis (Cnidaria; Scleractinia) contains a large group I intron and a candidate control region
    Madeleine J H van Oppen
    Biochemistry and Molecular Biology, James Cook University, Townsville, Queensland 4811, Australia
    J Mol Evol 55:1-13. 2002
    ..Comparisons between a wide range of Acropora species showed that a long hairpin predicted in rns-cox3 is phylogenetically conserved, and allowed the tentative identification of conserved sequence blocks...
  71. 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...

Research Grants26

  1. Fragile X-associated Tremor/Ataxia Syndrome
    Paul Hagerman; Fiscal Year: 2007
    ..Thus, knowledge of the mechanisms leading to the inclusions in FXTAS, as a single-gene disorder, should lead to a broader understanding of the events leading to inclusion formation in other neurodegenerative disorders. ..
  2. Neurological Phenotype in FMR1 Premutation Carriers
    Paul Hagerman; Fiscal Year: 2002
    ..The project will also include an analysis of association of the phenotype with a newly described molecular abnormality of the premutation range (elevated FMR1 mRNA). ..
  3. Expression of the Fragile X Gene
    Paul Hagerman; Fiscal Year: 2003
    ..Methods of approach will continue to be quantitative (fluorescence) RT-PCR, and will incorporate chromatin immunoprecipitation as an assay for acetylation status of FMR1-associated histones. ..
  4. Neurological Phenotype in FMR1 Premutation Carriers
    Paul Hagerman; Fiscal Year: 2004
    ..The project will also include an analysis of association of the phenotype with a newly described molecular abnormality of the premutation range (elevated FMR1 mRNA). ..
  5. Expression of the Fragile X Gene
    Paul Hagerman; Fiscal Year: 2004
    ..Methods of approach will continue to be quantitative (fluorescence) RT-PCR, and will incorporate chromatin immunoprecipitation as an assay for acetylation status of FMR1-associated histones. ..
  6. Expression of the Fragile X Gene
    Paul Hagerman; Fiscal Year: 2009
    ..The public health impact of this effort is underscored by the fact that there are estimated to be at least 500,000 premutation carriers, and nearly 100,000 individuals with full mutation forms of the fragile X gene in the US. ..
  7. Fragile X-associated Tremor/Ataxia Syndrome
    Paul Hagerman; Fiscal Year: 2009
    ..Thus, knowledge of the mechanisms leading to the inclusions in FXTAS, as a single-gene disorder, should lead to a broader understanding of the events leading to inclusion formation in other neurodegenerative disorders. ..
  8. Expression of the Fragile X Gene
    Paul J Hagerman; Fiscal Year: 2010
    ..The public health impact of this effort is underscored by the fact that there are estimated to be at least 500,000 premutation carriers, and nearly 100,000 individuals with full mutation forms of the fragile X gene in the US. ..
  9. PROTEIN NUCLEIC ACID INTERACTIONS
    Paul Hagerman; Fiscal Year: 2001
    ..The RNA target is likely to possess a significant degree of flexibility prior to protein binding, thus providing a test of the TEB/LRET approach to assess flexibility. ..
  10. Expression of the Fragile X Gene
    Paul J Hagerman; Fiscal Year: 2011
    ..The public health impact of this effort is underscored by the fact that there are estimated to be at least 500,000 premutation carriers, and nearly 100,000 individuals with full mutation forms of the fragile X gene in the US. ..
  11. Fragile X-associated Tremor/Ataxia Syndrome
    Paul Hagerman; Fiscal Year: 2006
    ..Thus, knowledge of the mechanisms leading to the inclusions in FXTAS, as a single-gene disorder, should lead to a broader understanding of the events leading to inclusion formation in other neurodegenerative disorders. ..
  12. Expression of the Fragile X Gene
    Paul Hagerman; Fiscal Year: 2002
    ..Methods of approach will continue to be quantitative (fluorescence) RT-PCR, and will incorporate chromatin immunoprecipitation as an assay for acetylation status of FMR1-associated histones. ..
  13. Expression of the Fragile X Gene
    Paul Hagerman; Fiscal Year: 2005
    ..Methods of approach will continue to be quantitative (fluorescence) RT-PCR, and will incorporate chromatin immunoprecipitation as an assay for acetylation status of FMR1-associated histones. ..
  14. Fragile X-associated Tremor/Ataxia Syndrome
    Paul Hagerman; Fiscal Year: 2005
    ..Thus, knowledge of the mechanisms leading to the inclusions in FXTAS, as a single-gene disorder, should lead to a broader understanding of the events leading to inclusion formation in other neurodegenerative disorders. ..
  15. Expression of the Fragile X Gene
    Paul Hagerman; Fiscal Year: 2007
    ..abstract_text> ..
  16. Neurological Phenotype in FMR1 Premutation Carriers
    Paul Hagerman; Fiscal Year: 2003
    ..The project will also include an analysis of association of the phenotype with a newly described molecular abnormality of the premutation range (elevated FMR1 mRNA). ..
  17. PROTEIN NUCLEIC ACID INTERACTIONS
    Paul Hagerman; Fiscal Year: 2002
    ..The RNA target is likely to possess a significant degree of flexibility prior to protein binding, thus providing a test of the TEB/LRET approach to assess flexibility. ..
  18. Neurological Phenotype in FMR1 Premutation Carriers
    Paul Hagerman; Fiscal Year: 2005
    ..The project will also include an analysis of association of the phenotype with a newly described molecular abnormality of the premutation range (elevated FMR1 mRNA). ..
  19. PROTEIN NUCLEIC ACID INTERACTIONS
    Paul Hagerman; Fiscal Year: 2000
    ..The RNA target is likely to possess a significant degree of flexibility prior to protein binding, thus providing a test of the TEB/LRET approach to assess flexibility. ..
  20. Expression of the Fragile X Gene
    Paul Hagerman; Fiscal Year: 2007
    ..The public health impact of this effort is underscored by the fact that there are estimated to be at least 500,000 premutation carriers, and nearly 100,000 individuals with full mutation forms of the fragile X gene in the US. ..