| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |
|
|
|
|||||||
|
|||||||||
From the M.I.N.D. Institute (Drs. R.J. Hagerman, Tassone, and P.J. Hagerman) and the University of California at Davis Medical Center, Sacramento; Departments of Neurology (Dr. Leehey) and Medicine (Dr. Grigsby), University of Colorado Health Sciences Center, Denver; Fragile X Treatment and Research Center (Drs. Hills and Wilson, and W. Heinrichs), The Children’s Hospital, Denver; Department of Biological Chemistry (Drs. Tassone and P.J. Hagerman), University of California at Davis School of Medicine; and Kaiser Permanente (Dr. Gage), Stockton, CA.
Address correspondence and reprint requests to Dr. Randi Hagerman, M.I.N.D. Institute, UC Davis Medical Center, 4860 Y Street, Suite 3020, Sacramento, CA 95817; e-mail: randi.hagerman{at}ucdmc.ucdavis.edu
The authors report five elderly men with the fragile X premutation who had a progressive action tremor associated with executive function deficits and generalized brain atrophy. These individuals had elevated fragile X mental retardation 1 gene (FMR1) messenger RNA and normal or borderline levels of FMR1 protein. The authors propose that elevations of FMR1 messenger RNA may be causative for a neurodegenerative syndrome in a subgroup of elderly men with the FMR1 premutation.
This article has been cited by other articles:
|
|
 |
|
  G Gorman, S Fairgrieve, D Birchall, and P F Chinnery Fragile X premutation presenting as essential tremor J. Neurol. Neurosurg. Psychiatry, October 1, 2008; 79(10): 1195 - 1196. [Full Text] [PDF]
|
|
|
|
 |
|
 J.A. Brunberg and for the Expert Panel on Neurologic Imaging Ataxia AJNR Am. J. Neuroradiol., August 1, 2008; 29(7): 1420 - 1422. [Full Text] [PDF]
|
|
|
|
|
|
Y Karmon and N Gadoth Fragile X associated tremor/ataxia syndrome (FXTAS) with dementia in a female harbouring FMR1 premutation J. Neurol. Neurosurg. Psychiatry, June 1, 2008; 79(6): 738 - 739. [Full Text] [PDF]
|
|
|
|
 |
|
 E G Allen, J Juncos, R Letz, M Rusin, D Hamilton, G Novak, L Shubeck, S W Tinker, and S L Sherman Detection of early FXTAS motor symptoms using the CATSYS computerised neuromotor test battery J. Med. Genet., May 1, 2008; 45(5): 290 - 297. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. A. Leehey, E. Berry-Kravis, C. G. Goetz, L. Zhang, D. A. Hall, L. Li, C. D. Rice, R. Lara, J. Cogswell, A. Reynolds, et al. FMR1 CGG repeat length predicts motor dysfunction in premutation carriers Neurology, April 15, 2008; 70(16_Part_2): 1397 - 1402. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 K. Soontarapornchai, R. Maselli, G. Fenton-Farrell, F. Tassone, P. J. Hagerman, D. Hessl, and R. J. Hagerman Abnormal Nerve Conduction Features in Fragile X Premutation Carriers Arch Neurol, April 1, 2008; 65(4): 495 - 498. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
D Z Loesch, M Cook, L Litewka, E Gould, A Churchyard, F Tassone, H R Slater, and E Storey A low symptomatic form of neurodegeneration in younger carriers of the FMR1 premutation, manifesting typical radiological changes J. Med. Genet., March 1, 2008; 45(3): 179 - 181. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
K. Amiri, R. J. Hagerman, and P. J. Hagerman Fragile X Associated Tremor/Ataxia Syndrome: An Aging Face of the Fragile X Gene Arch Neurol, January 1, 2008; 65(1): 19 - 25. [Full Text] [PDF]
|
|
|
|
 |
|
 J. Amos Wilson, V. M. Pratt, A. Phansalkar, K. Muralidharan, W. E. Highsmith Jr, J. C. Beck, S. Bridgeman, E. M. Courtney, L. Epp, A. Ferreira-Gonzalez, et al. Consensus Characterization of 16 FMR1 Reference Materials: A Consortium Study J. Mol. Diagn., January 1, 2008; 10(1): 2 - 12. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 K. Debacker and R.F. Kooy Fragile sites and human disease Hum. Mol. Genet., October 15, 2007; 16(R2): R150 - R158. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
O. A. Sofola, P. Jin, J. Botas, and D. L. Nelson Argonaute-2-dependent rescue of a Drosophila model of FXTAS by FRAXE premutation repeat Hum. Mol. Genet., October 1, 2007; 16(19): 2326 - 2332. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 S. Khateb, P. Weisman-Shomer, I. Hershco-Shani, A. L. Ludwig, and M. Fry The tetraplex (CGG)n destabilizing proteins hnRNP A2 and CBF-A enhance the in vivo translation of fragile X premutation mRNA Nucleic Acids Res., September 27, 2007; 35(17): 5775 - 5788. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. S. Adams, P. E. Adams, D. Nguyen, J. A. Brunberg, F. Tassone, W. Zhang, K. Koldewyn, S. M. Rivera, J. Grigsby, L. Zhang, et al. Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS) Neurology, August 28, 2007; 69(9): 851 - 859. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 E. Garcia-Alegria, B. Ibanez, M. Minguez, M. Poch, A. Valiente, A. Sanz-Parra, C. Martinez-Bouzas, E. Beristain, and M.-I. Tejada Analysis of FMR1 gene expression in female premutation carriers using robust segmented linear regression models RNA, May 1, 2007; 13(5): 756 - 762. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
F. Tassone, A. Beilina, C. Carosi, S. Albertosi, C. Bagni, L. Li, K. Glover, D. Bentley, and P. J. Hagerman Elevated FMR1 mRNA in premutation carriers is due to increased transcription RNA, April 1, 2007; 13(4): 555 - 562. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
D. Z Loesch, Q. M Bui, R. M Huggins, R. J Mitchell, R. J Hagerman, and F. Tassone 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 J. Med. Genet., March 1, 2007; 44(3): 200 - 204. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 D. Hessl, S. Rivera, K. Koldewyn, L. Cordeiro, J. Adams, F. Tassone, P. J. Hagerman, and R. J. Hagerman Amygdala dysfunction in men with the fragile X premutation Brain, February 1, 2007; 130(2): 404 - 416. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. Cohen, K. Masyn, J. Adams, D. Hessl, S. Rivera, F. Tassone, J. Brunberg, C. DeCarli, L. Zhang, J. Cogswell, et al. Molecular and imaging correlates of the fragile X-associated tremor/ataxia syndrome Neurology, October 24, 2006; 67(8): 1426 - 1431. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
R. J. Osborne and C. A. Thornton RNA-dominant diseases Hum. Mol. Genet., October 15, 2006; 15(suppl_2): R162 - R169. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. Jacquemont, M. A Leehey, R. J Hagerman, L. A Beckett, and P. J Hagerman Size bias of fragile X premutation alleles in late-onset movement disorders J. Med. Genet., October 1, 2006; 43(10): 804 - 809. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
E. Cellini, P. Forleo, A. Ginestroni, B. Nacmias, A. Tedde, S. Bagnoli, M. Mascalchi, S. Sorbi, and S. Piacentini Fragile X Premutation With Atypical Symptoms at Onset. Arch Neurol, August 1, 2006; 63(8): 1135 - 1138. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. A. Bourgeois, F. Farzin, J. A. Brunberg, F. Tassone, P. Hagerman, L. Zhang, D. Hessl, and R. Hagerman Dementia With Mood Symptoms in a Fragile X Premutation Carrier With the Fragile X-Associated Tremor/Ataxia Syndrome: Clinical Intervention With Donepezil and Venlafaxine J Neuropsychiatry Clin Neurosci, May 1, 2006; 18(2): 171 - 177. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 B. Bodega, S. Bione, L. Dalpra, D. Toniolo, F. Ornaghi, W. Vegetti, E. Ginelli, and A. Marozzi Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation Hum. Reprod., April 1, 2006; 21(4): 952 - 957. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C. M. Greco, R. F. Berman, R. M. Martin, F. Tassone, P. H. Schwartz, A. Chang, B. D. Trapp, C. Iwahashi, J. Brunberg, J. Grigsby, et al. Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS) Brain, January 1, 2006; 129(1): 243 - 255. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C. K. Iwahashi, D. H. Yasui, H.-J. An, C. M. Greco, F. Tassone, K. Nannen, B. Babineau, C. B. Lebrilla, R. J. Hagerman, and P. J. Hagerman Protein composition of the intranuclear inclusions of FXTAS Brain, January 1, 2006; 129(1): 256 - 271. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
R. Ceravolo, A. Antonini, D. Volterrani, C. Rossi, S. Goldwurm, E. Di Maria, L. Kiferle, U. Bonuccelli, and L. Murri Dopamine transporter imaging study in parkinsonism occurring in fragile X premutation carriers Neurology, December 27, 2005; 65(12): 1971 - 1973. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
D. G. Arocena, C. K. Iwahashi, N. Won, A. Beilina, A. L. Ludwig, F. Tassone, P. H. Schwartz, and P. J. Hagerman Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells Hum. Mol. Genet., December 1, 2005; 14(23): 3661 - 3671. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. Saluto, A. Brussino, F. Tassone, C. Arduino, C. Cagnoli, P. Pappi, P. Hagerman, N. Migone, and A. Brusco An Enhanced Polymerase Chain Reaction Assay to Detect Pre- and Full Mutation Alleles of the Fragile X Mental Retardation 1 Gene J. Mol. Diagn., November 1, 2005; 7(5): 605 - 612. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C. Kamm, D. G. Healy, N. P. Quinn, U. Wullner, J. C. Moller, L. Schols, F. Geser, K. Burk, A. D. Borglum, M. T. Pellecchia, et al. The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group Brain, August 1, 2005; 128(8): 1855 - 1860. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C. Kamm and T. Gasser The variable phenotype of FXTAS: A common cause of "idiopathic" disorders Neurology, July 26, 2005; 65(2): 190 - 191. [Full Text] [PDF]
|
|
|
|
|
|
D. A. Hall, E. Berry-Kravis, S. Jacquemont, C. D. Rice, J. Cogswell, L. Zhang, R. J. Hagerman, P. J. Hagerman, and M. A. Leehey Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS) Neurology, July 26, 2005; 65(2): 299 - 301. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. P. O'Dwyer, C. Clabby, J. Crown, D. E. Barton, and M. Hutchinson Fragile X-associated tremor/ataxia syndrome presenting in a woman after chemotherapy Neurology, July 26, 2005; 65(2): 331 - 332. [Full Text] [PDF]
|
|
|
|
|
|
V. Biancalana, M. Toft, I. Le Ber, F. Tison, E. Scherrer, S. Thibodeau, J. L. Mandel, A. Brice, M. J. Farrer, and A. Durr FMR1 Premutations Associated With Fragile X-Associated Tremor/Ataxia Syndrome in Multiple System Atrophy Arch Neurol, June 1, 2005; 62(6): 962 - 966. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C. J. McLeod, L. V. O'Keefe, and R. I. Richards The pathogenic agent in Drosophila models of 'polyglutamine' diseases Hum. Mol. Genet., April 15, 2005; 14(8): 1041 - 1048. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S Jacquemont, A Orrico, L Galli, P K Sahota, J A Brunberg, C Anichini, M Leehey, S Schaeffer, R J Hagerman, P J Hagerman, et al. Spastic paraparesis, cerebellar ataxia, and intention tremor: a severe variant of FXTAS? J. Med. Genet., February 1, 2005; 42(2): e14 - e14. [Full Text] [PDF]
|
|
|
|
|
|
P. Pugliese, G. Annesi, N. Cutuli, G. Arabia, G. Nicoletti, F. Annesi, P. Tarantino, A. Gambardella, P. Valentino, M. Zappia, et al. The fragile X premutation presenting as postprandial hypotension Neurology, December 14, 2004; 63(11): 2188 - 2189. [Full Text] [PDF]
|
|
|
|
|
|
C. J. Moore, E. M. Daly, F. Tassone, C. Tysoe, N. Schmitz, V. Ng, X. Chitnis, P. McGuire, J. Suckling, K. E. Davies, et al. The effect of pre-mutation of X chromosome CGG trinucleotide repeats on brain anatomy Brain, December 1, 2004; 127(12): 2672 - 2681. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 H. Deng, W. Le, and J. Jankovic Premutation Alleles Associated With Parkinson Disease and Essential Tremor JAMA, October 13, 2004; 292(14): 1685 - 1686. [Full Text] [PDF]
|
|
|
|
|
|
E. K. Tan, Y. Zhao, K. Y. Puong, H. Y. Law, L. L. Chan, K. Yew, C. Tan, H. Shen, V. R. Chandran, M. L. Teoh, et al. Fragile X premutation alleles in SCA, ET, and parkinsonism in an Asian cohort Neurology, July 27, 2004; 63(2): 362 - 363. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
F Tassone, R J Hagerman, D Garcia-Arocena, E W Khandjian, C M Greco, and P J Hagerman Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome J. Med. Genet., April 1, 2004; 41(4): e43 - e43. [Full Text] [PDF]
|
|
|
|
|
|
A. Beilina, F. Tassone, P. H. Schwartz, P. Sahota, and P. J. Hagerman Redistribution of transcription start sites within the FMR1 promoter region with expansion of the downstream CGG-repeat element Hum. Mol. Genet., March 1, 2004; 13(5): 543 - 549. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. Jacquemont, R. J. Hagerman, M. A. Leehey, D. A. Hall, R. A. Levine, J. A. Brunberg, L. Zhang, T. Jardini, L. W. Gane, S. W. Harris, et al. Penetrance of the Fragile X-Associated Tremor/Ataxia Syndrome in a Premutation Carrier Population JAMA, January 28, 2004; 291(4): 460 - 469. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
L.-S. Chen, F. Tassone, P. Sahota, and P. J. Hagerman 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 Hum. Mol. Genet., December 1, 2003; 12(23): 3067 - 3074. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
B. A. Oostra and R. Willemsen A fragile balance: FMR1 expression levels Hum. Mol. Genet., October 15, 2003; 12(90002): R249 - 257. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. Jasinska, G. Michlewski, M. de Mezer, K. Sobczak, P. Kozlowski, M. Napierala, and W. J. Krzyzosiak Structures of trinucleotide repeats in human transcripts and their functional implications Nucleic Acids Res., October 1, 2003; 31(19): 5463 - 5468. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
R. Willemsen, M. Hoogeveen-Westerveld, S. Reis, J. Holstege, L.-A. W.F.M. Severijnen, I. M. Nieuwenhuizen, M. Schrier, L. van Unen, F. Tassone, A. T. Hoogeveen, et al. The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome Hum. Mol. Genet., May 1, 2003; 12(9): 949 - 959. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. A. Leehey, R. P. Munhoz, A. E. Lang, J. A. Brunberg, J. Grigsby, C. Greco, S. Jacquemont, F. Tassone, A. M. Lozano, P. J. Hagerman, et al. The Fragile X Premutation Presenting as Essential Tremor Arch Neurol, January 1, 2003; 60(1): 117 - 121. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. A. Brunberg, S. Jacquemont, R. J. Hagerman, E. M. Berry-Kravis, J. Grigsby, M. A. Leehey, F. Tassone, W. T. Brown, C. M. Greco, and P. J. Hagerman Fragile X Premutation Carriers: Characteristic MR Imaging Findings of Adult Male Patients with Progressive Cerebellar and Cognitive Dysfunction AJNR Am. J. Neuroradiol., November 1, 2002; 23(10): 1757 - 1766. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
I. E. Scheffer, R. H. Wallace, F. L. Phillips, P. Hewson, K. Reardon, G. Parasivam, P. Stromme, S. F. Berkovic, J. Gecz, and J. C. Mulley X-linked myoclonic epilepsy with spasticity and intellectual disability: Mutation in the homeobox gene ARX Neurology, August 13, 2002; 59(3): 348 - 356. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C. M. Greco, R. J. Hagerman, F. Tassone, A. E. Chudley, M. R. Del Bigio, S. Jacquemont, M. Leehey, and P. J. Hagerman Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers Brain, August 1, 2002; 125(8): 1760 - 1771. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
R. H. Walker, S. Morgello, B. Davidoff-Feldman, A. Melnick, M. J. Walsh, P. Shashidharan, and M. F. Brin Autosomal dominant chorea-acanthocytosis with polyglutamine-containing neuronal inclusions Neurology, April 9, 2002; 58(7): 1031 - 1037. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
D. G. Munoz, R.J. Hagerman, C. Greco, S. Jacquemont, M. Leehy, and P. Hagerman Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X Neurology, March 26, 2002; 58(6): 987 - 988. [Full Text]
|
|
Read all Correspondence
| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |
