The epidemiology of FXTAS

The Fragile X-Associated Tremor Ataxia Syndrome (FXTAS)

Volumn , Issue , 2010, Pages 17-30

  Hall, Deborah A ^a   Jacquemont, Sebastien ^b  

^a RUSH UNIVERSITY   (United States)

^b LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 79959990892     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-1-4419-5805-1_2     Document Type: Chapter

References (46)

1. Annesi, G. N., Tarantino, P., Cutuli, N., Annesi, F., Marco, E. V., Zappia, M., Morgante, L., Arabia, G., Pugliese, P., Condino, F., Carrideo, S., Civitelli, D., Caracciolo, M., Romeo, N., Spadafora, P., Candiano, I. C., Quattrone, A. 2004. FRAXE intermediate alleles are associated with Parkinson's disease. Neurosci Lett 368:21-24.
2. Arocena, D. G., Louis, E. D., Tassone, F., Gilliam, T. C., Ottman, R., Jacquemont, S., Hagerman, P. J. 2004. Screen for expanded FMR1 alleles in patients with essential tremor. Mov Disord 19:930-947.
3. Berkenstadt, M., Ries-Levavi, L., Cuckle, H., Peleg, L., Barkai, G. 2007. Preconceptional and prenatal screening for fragile X syndrome: experience with 40, 000 tests. Prenat Diagn 27:991-994.
4. Berry-Kravis, E., Potanos, K., Weinberg, D., Zhou, L., Goetz, C. G. 2005. Fragile x-associated tremor/ataxia syndrome in sisters related to X-inactivation. Ann Neurol 57:144-147.
5. Biancalana, V., Toft, M., Le Ber, I., Tison, F., Scherrer, E., Thibodeau, S., Mandel, J. L., Brice, A., Farrer, M. J., Dürr, A. 2005. FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophy. Arch Neurol 62:962-966.
6. Brusse, E., Maat-Kievit, J. A., Van Swieten, J. C. 2007. Diagnosis and management of early- and late-onset cerebellar ataxia. Clin Genet 71:12-24.
7. Brussino, A., Gellera, C., Saluto, A., Mariotti, C., Arduino, C., Castelloti, B., Camerlingo, M., De Angelis, V., Orsi, L., Tosca, P., Migone, N., Taroni, F., Brusco, A. 2005. FMR1 gene premutation is a frequent cause of late-onset sporadic cerebellar ataxia. Neurology 64:145-147.
8. Cilia, R., Kraff, J., Canesi, M., Pezzoli, G., Goldwurm, S., Amiri, K., Tang, H. T., Pan, R., Hagerman, P. J., Tassone, F. 2009. Screening for the presence of FMR1 premutation alleles in women with parkinsonism. Arch Neurol 66(2):244-249.
9. Coffey, S. M., Cook, K., Tartaglia, N., Tassone, F., Nguyen, D. V., Pan, R., Bronsky, H. E., Yuhas, J., Borodyanskaya, M., Grigsby, J., Doerflinger, M., Hagerman, P. J., Hagerman, R. J. 2008. Expanded clinical phenotype of women with the FMRl premutation. Am J Med Genet A, 146(8):1009-1016.
10. Deng, H., Jankiovic, J. 2004. Premutation alleles associated with Parkinson disease and essential tremor. JAMA 292:1685-1688.
11. Dombrowski, C., Levesque, S., Morel, M. L., Rouillard, P., Morgan, K., Rousseau, F. 2002. Premutation and intermediate-size FMR1 alleles in 10, 572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles. Hum Mol Genet 11:371-378.
12. Fernandez-Carvajal, I., Walichiewicz, P., Xiaosen, X., Pan, R., Hagerman, P. J., Tassone, F. 2009. Screening for expanded alleles for the FMR1 gene in blood spots from newborn males in a Spanish population. J Mol Diagn 11(4):324-329.
13. Garland, E. M., Vmencak-Jones, C., Biaggioni, I., Davis, T. L., Montine, T. J., Robertson, D. 2004. Fragile X gene premutation in multiple system atrophy. J Neurol Sci 227:115-118.
14. Geva, E., Yaron, Y., Shomrat, Y., Ben-Yehuda, A., Zabari, S., Peretz, H., Naiman, T., Yeger, H., Orr-Urtreger, A. September 1, 2000. The risk of fragile X premutation expansion is lower in carriers detected by general prenatal screening than in carriers from known fragile X families. Genet Test 4(3):289-292.
15. Hagerman, H. 2008. The fragile X prevalence paradox. J Med Genet 45(8):498-499. 10.1136/jmg.2008.059055.
16. Hagerman, R. J., Leavitt, B. R., Farzin, F., Jacquemont, S., Greco, C. M., Brunberg, J. A., Tassone, F., Hessl, D., Harris, S. W., Zhang, L., Jardini, T., Gane, L. W., Ferranti, J., Ruiz, L., Leehey, M. A., Grigsby, J., Hagerman, P. J. 2004. Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation. Am J Hum Genet 74:1051-1056.
17. Hall, D. A., Berry-Kravis, E., Jacquemont, S., Rice, C. D., Cogswell, J., Zhang, L., Hagerman, R., Hagerman, P. J., Leehey, M. A. 2005. Prior diagnosis given to persons with the fragile X-associated tremor/ataxia syndrome. Neurology 65:299-301.
18. Hall, D. A., Hagerman, R. J., Hagerman, P. J., Jacquemont, S., Leehey, M. A. 2006. Prevalence of FMR1 repeat expansions in movement disorders: a systematic review. Neuroepidemiology 26:151-155.
19. Hall, D. A., Howard, K., Hagerman, R. J., Leehey, M. A. 2009. Parkinsonism in FMR1 premutation carriers May be indistinguishable from Parkinson disease. Park Rel Dis 15:156-159.
20. Hedrich, K., Pramstaller, P. P., Stübke, K., Hiller, A., Kabakci, K., Purmann, S., Kasten, M., Scaglione, C., Schwinger, E., Volkmann, J., Kostic, V., Vieregge, P., Martinelli, P., Abbruzzese, G., Klein, C., Zühlke, C. 2005. Premutations in the FMR1 gene as a modifying factor in parkin-associated Parkinson's disease? Mov Disord 20(8):1060-1062.
21. Jacquemont, S., Hagerman, R., Leehey, M. A., Hall, D. A., Levine, R. A., Brunberg, J. A., Zhang, L., Jardini, T., Gane, L. W., Harris, S. W., Herman, K., Grigsby, J., Greco, C. M., Berry-Kravis, E., Tassone, F., Hagerman, P. J. 2004. Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. JAMA 291(4):460-469.
22. Jacquemont, S., Leehey, M. A., Hagerman, R. J., Beckett, L. A., Hagerman, P. J. 2006. Size bias of fragile X premutation alleles in late-onset movement disorders. J Med Genet 43(10):804-809.
23. Kamm, C., Healy, D., Quinn, N. P., Wullner, U., Moller, J. C., Schols, L., Geser, F., Burk, K., Borglum, A. D., Pellecchia, M. T., Tolosa, E., Del Sorbo, F., Nilsson, C., Bandmann, O., Sharma, M., Mayer, P., Gasteiger, M., Haworth, A., Ozawa, T., Lees, A. J., Short, J., Guinti, P., Holinski-Feder, E., Illig, T., Wichmann, H. E., Wenning, G. K., Wood, N. W., 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.
24. Kerber, K. A., Jen, J., Perlman, S., Baloh, R. 2005. Late-onset pure cerebellar ataxia: differentiating those with and without identifiable mutations. J Neurol Sci 238:41-45.
25. Kraff, J., Tang, H., Cilia, R., Canesi, M., Pezzoli, G., Goldwurm, S., Hagerman, P. J., Tassone, F. 2007. Screen for excess FMR1 premutation alleles among males with parkinsonism. Arch Neurol 64(7):1002-1006.
26. Kraft, S., Furtado, S., Ranawaya, R., Parboosingh, J., Bleoo, S., McElligott, K., Bridge, P., Spacey, S., Das, S., Suchowersky, O. 2005. Adult onset spinocerebellar ataxia in a Canadian movement disorders clinic. Can J Neurol Sci 32(4):450-458.
27. Leehey, M. A., Berry-Kravis, E., Goetz, C., Zhang, L., Hall, D. A., Li, L., Rice, C. D., Lara, R., Cogswell, J. B., Reynolds, A., Gane, L., Jacquemont, S., Tassone, F., Grigsby, J., Hagerman, R. J., Hagerman, R. J. 2008. FMR1 CGG repeat length predicts motor dysfunction in FXTAS. Neurology 70:1397-1402.
28. 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.
29. Milunsky, J. M., Maher, T. A. 2004. Fragile X carrier screening and spinocerebellar ataxia in older males. Am J Med Genet A 125 A (3):320.
30. Pesso, R., Berkenstadt, M., Cuckle, H., Gak, E., Peleg, L., Frydman, M., Barkai, G. 2000. Screening for fragile X syndrome in women of reproductive age. Prenat Diagn 20:611-614.
31. Reis, A. H., Ferreira, A., Gomes, K. B., Aguiar, M. J., Fonseca, C. G., Cardoso, F. E., Pardini, V. C., Carvalho, M. R. 2008. Frequency of FMR1 premutation in individuals with ataxia and/or tremor and/or parkinsonism. Genet Mol Res 7(1):74-84.
32. Rife, M., Badenas, C., Mallolas, J., Jimenez, L., Cervera, R., Maya, A., Glover, G., Rivera, F., Mila, M. 2003. Incidence of fragile X in 5, 000 consecutive newborn males. Genet Test 7:339-343.
33. Rodriguez-Revenga, L., Gomez-Anson, B., Muñoz, E., Jiménez, D., Santos, M., Tintoré, M., Martín, G., Brieva, L., Milà, M. 2007. FXTAS in Spanish patients with ataxia: support for female FMR1 premutation screening. Mol Neurobiol 35(3):324-328.
34. Rousseau, F., Rouillard, P., Morel, M., Khandjian, E. W., Morgan, K. 1995. Prevalence of carriers of premutation-size alleles of the FMR1 gene - and implications for the population genetics of the fragile X syndrome. Am J Hum Genet 57:1006-1018.
35. Ryynanen, M., Heinonen, S., Makkonen, M., Kajanoja, E., Mannermaa, A., Pertti, K. 1999. Feasibility and acceptance of screening for fragile X mutations in low-risk pregnancies. Eur J Hum Genet 7:212-216.
36. Saul, R. A., Friez, M., Eaves, K., Stapleton, G. A., Collins, J. S., Schwartz, C. E., Stevenson, R. E. 2008. Fragile X syndrome detection in newborns - pilot study. Genet Med 10(10):714-719.
37. Seixas, A. I., Maurer, M., Lin, M., Callahan, C., Ahuja, A., Matsura, T., Ross, C. A., Hisama, F. M., Silveria, E., Margolis, R. L. 2005. FXTAS, SCA10, and SCA17 in American patients with movement disorders. Am J Med Genet A 136(1):87-89.
38. Tan, E. K., Zhao, Y., Puong, K. Y., Law, H. Y., Chan, L. L., Yew, K., Shen, H., Chandran, V. R., Yuen, Y., Pavanni, R., Wong, M. C., Ng., I. S. 2005. Expanded FMR1 alleles are rare in idiopathic Parkinson's disease. Neurogenetics 6(1):51-52.
39. Tan, E. K., Zhao, Y., Puong, K. Y., Law, H. Y., Chan, L. L., Yew, K., Tan, C., Shen, H., Chandran, V. R., Teoh, M. L., Yih, Y., Pavanni, R., Wong, M. C., Ng, I. S. 2004. Fragile X premutation alleles in SCA, ET, and parkinsonism in an Asian cohort. Neurology 63:362-363.
40. Tassone, F., Adams, J., Berry-Kravis, E., Cohen, S., Brusco, A., Leehey, M. A., Li, L., Hagerman, R. J., Hagerman, P. J. 2007. CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremor/ataxia syndrome (FXTAS). Am J Med Genet B Neuropsychiatr Genet 144(4):566-569.
41. Toft, M., Aasley, J., Bisceglio, G., Adler, C. H., Uitti, R. J., Krygowska-Wajs, A., Lynch, T., Wszolek, Z. K., Farrer, M. J. 2005. Parkinsonism, FXTAS, and FMR1 premutations. Mov Disord 20:230-233.
42. Toledano-Alhadef, H., Basel-Vanagaite, L., Magal, N., Davidov, B., Ehrlich, S., Drasinover, V., Taub, E., Halpern, G. J., Ginott, N., Shohat, M. 2001. Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel. Am J Hum Genet 69(2):351-360.
43. Tzeng, C., Tsai, L., Hwu, W., Lin, S., Chao, M., Jong, Y., Chu, S. Y., Chao, W. C., Lu, C. L. 2005. Prevalence of the FMR1 mutation in Taiwan assessed by large-scale screening of newborn boys and analysis of DXS548-FRAXAC1 haplotype. Am J Med Genet A 133:37-43.
44. Van Esch, H., Dom, R., Bex, D., Salden, I., Caeckebeke, J., Wibail, A., Borghgraef, M., Leguis, E., Fryns, J., Matthijs, G. 2005. Screening for FMR1 premutations in 122 older Flemish males presenting with ataxia. Euro J Hum Genet 13:121-123.
45. Yabe, I., Soma, H., Takei, A., Fujik, N., Sasaki, H. 2004. No association between FMR1 premutations and multiple system atrophy. J Neurol 251(11):1411-1412.
46. Zühlke, C., Budnik, A., Gehlken, U., Dalski, A., Purmann, S., Naumann, M., Schmidt, M., Bürk, K., Schwinger, E. 2004. J Neurol 251(11):1418-1419.