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Research ArticleBRAIN

Fragile X Premutation Carriers: Characteristic MR Imaging Findings of Adult Male Patients with Progressive Cerebellar and Cognitive Dysfunction

James A. Brunberg, Sebastien Jacquemont, Randi J. Hagerman, Elizabeth M. Berry-Kravis, Jim Grigsby, Maureen A. Leehey, Flora Tassone, W. Ted Brown, Claudia M. Greco and Paul J. Hagerman
American Journal of Neuroradiology November 2002, 23 (10) 1757-1766;
James A. Brunberg
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Sebastien Jacquemont
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Randi J. Hagerman
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Elizabeth M. Berry-Kravis
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Jim Grigsby
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Maureen A. Leehey
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Flora Tassone
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W. Ted Brown
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Claudia M. Greco
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Paul J. Hagerman
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Article Information

vol. 23 no. 10 1757-1766
PubMed 
12427636

Published By 
American Journal of Neuroradiology
Print ISSN 
0195-6108
Online ISSN 
1936-959X
History 
  • Received March 20, 2002
  • Accepted after revision July 11, 2002
  • Published online November 1, 2002.

Copyright & Usage 
Copyright © American Society of Neuroradiology

Author Information

  1. James A. Brunberg*,
  2. Sebastien Jacquemont‡,
  3. Randi J. Hagerman‡§,
  4. Elizabeth M. Berry-Kravis¶,
  5. Jim Grigsby|,
  6. Maureen A. Leehey**,
  7. Flora Tassone†,
  8. W. Ted Brown††,
  9. Claudia M. Greco‖ and
  10. Paul J. Hagerman†
  1. *Department of Radiology, University of California, Davis, School of Medicine, CA
  2. †Department of Biological Chemistry, University of California, Davis, School of Medicine, CA
  3. ‡M.I.N.D. Institute, University of California Davis Medical Center, Sacramento, CA
  4. §Department of Pediatrics, University of California Davis Medical Center, Sacramento, CA
  5. ‖Department of Pathology, University of California Davis Medical Center, Sacramento, CA
  6. ¶Department of Pediatrics, Rush Presbyterian Hospital, Chicago, IL
  7. |Department of Medicine, University of Colorado Health Sciences Center, Denver, CO
  8. **Department of Neurology, University of Colorado Health Sciences Center, Denver, CO
  9. ††Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY
  1. Address reprint requests to James A. Brunberg, MD, MHSA, Department of Radiology, University of California, Davis, 4860 Y Street, Suite 3100, Sacramento, CA 95817
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American Journal of Neuroradiology: 23 (10)
American Journal of Neuroradiology
Vol. 23, Issue 10
1 Nov 2002
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Cite this article
James A. Brunberg, Sebastien Jacquemont, Randi J. Hagerman, Elizabeth M. Berry-Kravis, Jim Grigsby, Maureen A. Leehey, Flora Tassone, W. Ted Brown, Claudia M. Greco, Paul J. Hagerman
Fragile X Premutation Carriers: Characteristic MR Imaging Findings of Adult Male Patients with Progressive Cerebellar and Cognitive Dysfunction
American Journal of Neuroradiology Nov 2002, 23 (10) 1757-1766;

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Fragile X Premutation Carriers: Characteristic MR Imaging Findings of Adult Male Patients with Progressive Cerebellar and Cognitive Dysfunction
James A. Brunberg, Sebastien Jacquemont, Randi J. Hagerman, Elizabeth M. Berry-Kravis, Jim Grigsby, Maureen A. Leehey, Flora Tassone, W. Ted Brown, Claudia M. Greco, Paul J. Hagerman
American Journal of Neuroradiology Nov 2002, 23 (10) 1757-1766;
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  • Glial dysregulation in human brain in Fragile X-related disorders
  • Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
  • ASFMR1 splice variant: A predictor of fragile X-associated tremor/ataxia syndrome
  • MR Imaging Features of the Cerebellum in Adult-Onset Neuronal Intranuclear Inclusion Disease: 8 Cases
  • Peripheral neuropathy in complex inherited diseases: an approach to diagnosis
  • FXTAS: New insights and the need for revised diagnostic criteria
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  • Fragile X-Associated Tremor/Ataxia Syndrome: Clinical Phenotype, Diagnosis, and Treatment
  • Penetrance of marked cognitive impairment in older male carriers of the FMR1 gene premutation
  • Molecular Pathogenesis of Fragile X-Associated Tremor/Ataxia Syndrome
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  • Fragile X associated tremor/ataxia syndrome (FXTAS) with dementia in a female harbouring FMR1 premutation
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  • Molecular and imaging correlates of the fragile X-associated tremor/ataxia syndrome
  • Size bias of fragile X premutation alleles in late-onset movement disorders
  • The roles of Sp1, Sp3, USF1/USF2 and NRF-1 in the regulation and three-dimensional structure of the Fragile X mental retardation gene promoter
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