112
Views
13
CrossRef citations to date
0
Altmetric
Original

Premutations in the FMR1 Gene Are Uncommon in Men Undergoing Genetic Testing for Spinocerebellar Ataxia

, , &
Pages 77-92 | Received 09 May 2007, Accepted 31 Aug 2007, Published online: 11 Jul 2009

REFERENCES

  • Allingham-Hawkins, D., Babul-Hirji, R., Chitayat, D., Holden, J., Yang, K., Lee, C., Hudson, R., Gorwill, H., Nolin, S., Glicksman, A., Jenkins, E., Brown, W., Howard-Peebles, P., Becchi, C., Cummings, E., Fallon, L., Seitz, S., Black, S., Vianna-Morgante, A., Costa, S., Otto, P., Mingroni-Netto, R., Murray, A., Webb, J., MacSwinney, F., Dennis, N., Jacobs, P., Syrrou, M., Georgiou, I., Patsalis, P., Giovannucci Uzielli, M., Guarducci, S., Lapi, E., Cecconi, A., Ricci, U., Ricotti, G., Biondi, C., Scarselli, B., & Vieri, F. (1999). Fragile X premutation is a significant risk factor for premature ovarian failure: The International Collaborative POF in Fragile X study—preliminary data. Amer. J. Med. Genet. 83, 322–325.
  • Biancalana, V., Toft, M., Le Ber, I., Tison, F., Scherrer, E., Thibodeau, S., Mandel, J., Brice, A., Farrer, M., & Durr, A. (2005). FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophy. Arch. Neurol. 62, 962–966.
  • Brown, W., Nolin, S., Houck, G.J., Ding, X., Glicksman, A., Li, S., Stark-Houck, S., Brophy, P., Duncan, C., Dobkin, C., & Jenkins, E. (1996). Prenatal diagnosis and carrier screening for fragile X by PCR. Amer. J. Med. Genet. 64, 191–195.
  • Brunberg, J., Jacquemont, S., Hagerman, R., Berry-Kravis, E., Grigsby, J., Leehey, M., Tassone, F., Brown, W., Greco, C., & Hagerman, P. (2002). Fragile X premutation carriers: Characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction. AJNR Amer. J. Neuroradiol. 23, 1757–1766.
  • Brussino, A., Gellera, C., Saluto, A., Mariotti, C., Arduino, C., Castellotti, B., Camerlingo, M., de Angelis, V., Orsi, L., Tosca, P., Migone, N., Taroni, F., & Brusco, A. (2005). FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia. Neurology 64, 145–147.
  • Conway, G., Hettiarachchi, S., Murray, A., & Jacobs, P. (1995). Fragile X premutations in familial premature ovarian failure. Lancet 346, 309–310.
  • Crawford, D., Acuna, J., & Sherman, S. (2001). FMR1 and the fragile X syndrome: Human genome epidemiology review. Genet. Med. 3, 359–371.
  • Dombrowski, C., Lévesque, S., Morel, M.L., Rouillard, P., Morgan, K., & Rousseau, F. (2002). Premutation and intermediate-size FMR1 alleles in 10572 males from the general population: Loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles. Hum. Molec. Genet. 11, 371–378.
  • Garcia-Aroncena, D., Louis, E., Tassone, F., Gilliam, T., Ottman, R., Jacquemont, S., & Hagerman, P. (2004). Screen for expanded FMR1 alleles in patients with essential tremor. Move. Disord. 19, 930–933.
  • Garland, E., Vnencak-Jones, C., Biaggioni, I., Davis, T., Montine, T., & Robertson, D. (2004). Fragile X gene premutation in multiple system atrophy. J. Neuro. Sci. 227, 115–118.
  • Greco, C., Berman, R., Martin, R., Tassone, F., Schwartz, P., Chang, A., Trapp, B., Iwahashi, C., Brunberg, J., Grigsby, J., Hessl, D., Becker, E., Papazian, J., Leehey, M., Hagerman, R., & Hagerman, P. (2006). Neuropathology of the fragile X-associated tremor/ataxia syndrome (FXTAS) Brain 129, 243–255.
  • Greco, C., Hagerman, R., Tassone, F., Chudley, A., Del Bigio, M., Jacquemont, S., Leehey, M., & Hagerman, P. (2002). Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers. Brain 125, 1760–1771.
  • Hagerman, R. (2006). Lessons from Fragile X regarding neurobiology, autism, and neurodegeneration. J. Devel. Behav. Pediatr. 27, 63–74.
  • Hagerman, R., Amiri, K., & Cronister, A. (1991). Fragile X checklist. Amer. J. Med. Genet. 38, 283–287.
  • Hagerman, R., Leavitt, B., Farzin, F., Jacquemont, S., Greco, C., Brunberg, J., Tassone, F., Hessl, D., Harris, S., Zhang, L., Jardini, T., Gane, L.W., Ferranti, J., Ruiz, L., Leehey, M., Grigsby, J., & Hagerman, P. (2004a). Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation. Amer. J. Hum. Genet. 74, 1051–1056.
  • Hagerman, R., Leehey, M., Heinrichs, W., Tassone, F., Wilson, R., Hills, J., Grigsby, J., Gage, B., & Hagerman, P. (2001). Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 57, 127–130.
  • Hall, D.A., Berry-Kravis, E., Jacquemont, S., Rice, C.D., Cogswell, J., Zhang, L., Hagerman, R.J., Hagerman, P.J., & Leehey, M.A. (2005). Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS) Neurology 65, 299–301.
  • Jacquemont, S., Hagerman, R., Leehey, M., Hall, D., Levine, R., Brunberg, J., Zhang, L., Jardini, T., Gane, L., Harris, S., Herman, K., Grigsby, J., Greco, C., Berry-Kravis, E., Tassone, F., & Hagerman, P. (2004). Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. J. Amer. Med. Assoc. 291, 460–469.
  • Kamm, C., Healy, D., Quinn, N., Wullner, U., Moller, J., Schols, L., Geser, F., Burk, K., Borglum, A., Pellecchia, M., Tolosa, E., del Sorbo, F., Nilsson, C., Bandmann, O., Sharma, M., Mayer, P., Gasteiger, M., Haworth, A., Ozawa, T., Lees, A., Short, J., Giunti, P., Holinski-Feder, E., Illig, T., Wichmann, H., Wenning, G., Wood, N., & Gasser, T. (2005). The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: Data from the EMSA Study Group. Brain 128, 1855–1860.
  • Lubs, H. (1969). A marker X chromosome. Amer. J. Hum. Genet. 21, 231–244.
  • Macpherson, J., Waghorn, A., Hammans, S., & Jacobs, P. (2003). Observation of an excess of fragile-X premutations in a population of males referred with spinocerebellar ataxia. Hum. Genet. 112, 619–620.
  • Martin, J., & Bell, J. (1943). A pedigree of mental defect showing sex-linkage. J. Neurol. Psych. 6, 154–157.
  • Milunsky, J., & Maher, T. (2004). Fragile X carrier screening and spinocerebellar ataxia in older males. Amer. J. Med. Genet A. 125, 320.
  • Murray, A., Webb, J., Grimley, S., Conway, G., & Jacobs, P. (1998). Studies of FRAXA and FRAXE in women with premature ovarian failure. J. Med. Genet. 35, 637–640.
  • Nolin, S.L., Brown, W.T., Glicksman, A., Houck, G.E. Jr., Gargano, A.D., Sullivan, A., Biancalana, V., Brondum-Nielsen, K., Hjalgrim, H., Holinski-Feder, E., Kooy, F., Longshore, J., Macpherson, J., Mandel, J.L., Matthijs, G., Rousseau, F., Steinbach, P., Vaisanen, M.L., von Koskul, H., & Sherman, SL. (2003). Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Amer. J. Hum. Genet. 72, 454–464.
  • Partington, M., Moore, D., & Turner, G. (1996). Confirmation of early menopause in fragile X carriers. Amer. J. Med. Genet. 64, 370–372.
  • Pieretti, M., Zhang, F., Fu, Y., Warren, S., Oostra, B., Caskey, C., & Nelson, D. (1991). Absence of expression of the FMR-1 gene in fragile X syndrome. Cell 66, 817–822.
  • Ranum, L., & Cooper, T. (2006). RNA-mediated neuromuscular disorders. Ann. Rev. Neurosci. 29, 259–277.
  • Schwartz, C., Dean, J., Howard-Peebles, P., Bugge, M., Mikkelsen, M., Tommerup, N., Hull, C., Hagerman, R., Holden, J., & Stevenson, R. (1994). Obstetrical and gynecological complications in fragile X carriers: a multicenter study. Amer. J. Med. Genet. 51, 400–402.
  • Seixas, A., Maurer, M., Lin, M., Callahan, C., Ahuja, A., Matsuura, T., Ross, C., Hisama, F., Silveira, I., & Margolis, R. (2005). FXTAS, SCA10, and SCA17 in American patients with movement disorders. Amer. J. Med. Genet A 136, 87–89.
  • Snow, K., Doud, L.K., Hagerman, R., Pergolizzi, R.G., Erster, S.H., & Thibodeau, S.N. (1993). Analysis of a CGG sequence at theFMR-1 locus in fragile X families and in the general population. Amer. J. Hum. Genet. 53, 1217–1228.
  • Tan, E., Zhao, Y., Puong, K., Law, H., Chan, L., Yew, K., Tan, C., Shen, H., Chandran, V., Teoh, M., Yih, Y., Pavanni, R., Wong, M., & Ng, I. (2004). Fragile X premutation alleles in SCA, ET, and parkinsonism in an Asian cohort. Neurology 63, 362–363.
  • Tassone, F., Hagerman, R., Taylor, A., Gane, L., Godfrey, T., & Hagerman, P. (2000). Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome. Amer. J. Hum. Genet. 66, 6–15.
  • Toft, M., Aasly, J., Bisceglio, G., Adler, C., Uitti, R., Krygowska-Wajs, A., Lynch, T., Wszolek, Z., & Farrer, M. (2005). Parkinsonism, FXTAS, and FMR1 premutations. Move. Disord. 20, 230–233.
  • Toledano-Alhadef, H., Basel-Vanagaite, L., Magal, N., Davidov, B., Ehrlich, S., Drasinover, V., Taub, E., Halpern, G., Ginott, N., & Shohat, M. (2001). Fragile-X carrier screening and the prevalence of permutation and full mutation carriers in Israel. Amer. J. Hum. Genet. 69, 351–360.
  • Van Esch, H., Dom, R., Bex, D., Salden, I., Caeckebeke, J., Wibail, A., Borghgraef, M., Legius, E., Fryns, J., & Matthijs, G. (2005). Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia. Eur. J. Hum. Genet. 13, 121–123.
  • Verkerk, A., Pieretti, M., Sutcliffe, J., Fu, Y., Kuhl, D., Pizzuti, A., Reiner, O., Richards, S., Victoria, M., Zhang, F., Eussen, B., van Ommen, G., Blonden, L., Riggins, G., Chastain, J., Kunst, C., Galjaard, H., Caskey, C., Nelson, D., Oostra, B., & Warran, S. (1991). Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65, 905–914.
  • Vianna-Morgante, A., Costa, S., Pares, A., & Verreschi, I. (1996). FRAXA premutation associated with premature ovarian failure. Amer. J. Med. Genet. 64, 373–375.
  • Willemsen, R., Hoogeveen-Westerveld, M., Reis, S., Holstege, J., Severijnen, L., Nieuwenhuizen, I., Schrier, M., van Unen, L., Tassone, F., Hoogeveen, A., Hagerman, P., Mientjes, E., & Oostra, B. (2003). The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome. Hum. Molec. Genet. 12, 949–959.
  • Yabe, I., Soma, H., Takei, A., Fujik, N., & Sasaki, H. (2004). No association between FMR1 premutations and multisystem atrophy. J. Neurol. 251, 1411–1412.
  • Zuhlke, C., Budnik, A., Gehlke, U., Dalski, A., Purmann, S., Naumann, M., Schmidt, M., Burk, K., & Schwinger, E. (2004). FMR1 premutation as a rare cause of late onset ataxia–evidence for FXTAS in female carriers. J. Neurol. 251, 1418–1419.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.