The DOI matches its Crossref record; 48 of the 48 references it cites were found in a registry or an index.
Expanded clinical phenotype of women with the FMR1 premutation
Open accessAbstract
Fragile X‐associated tremor/ataxia syndrome (FXTAS) is generally considered to be uncommon in older female carriers of premutation alleles (55–200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene; however, neither prevalence, nor the nature of the clinical phenotype, has been well characterized in female carriers. In this study, we evaluated 146 female carriers (mean, 42.3 years; range, 20–75 years) with and without core features of FXTAS (tremor; gait ataxia), and 69 age‐matched controls (mean, 45.8 years; range, 21–78 years). Compared with controls, carriers with definite or probable FXTAS had greater medical co‐morbidity, with increased prevalence of thyroid disease (P = 0.0096), hypertension (P = 0.0020), seizures (P = 0.0077), peripheral neuropathy (P = 0.0040), and fibromyalgia (P = 0.0097), in addition to the typical symptoms of FXTAS–tremor (P < 0.0001) and ataxia (P < 0.0001). The non‐FXTAS premutation group had more complaints of chronic muscle pain (P = 0.0097), persistent paraesthesias in extremities (P < 0.0001), and history of tremor (P < 0.0123) than controls. The spectrum of clinical involvement in female carriers with FXTAS is quite broad, encompassing a number of medical co‐morbidities as well as the core movement disorder. 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. © 2008 Wiley‐Liss, Inc.
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Cites
Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X
Hagerman, R. J., Leehey, M., Heinrichs, W., Tassone, F., Wilson, R., Hills, J., Grigsby, J., Gage, B., & Hagerman, P. J. (2001) · Neurology · doi:10.1212/wnl.57.1.127 · Cited by 964
Self-citationTassone, F., Hagerman, R. J., Taylor, A. K., Gane, L. W., Godfrey, T. E., & Hagerman, P. J. (2000) · The American Journal of Human Genetics · doi:10.1086/302720 · Cited by 774
Self-citationFragile X Premutation Tremor/Ataxia Syndrome: Molecular, Clinical, and Neuroimaging Correlates
Jacquemont, S., Hagerman, R. J., Leehey, M., Grigsby, J., Zhang, L., Brunberg, J. A., Greco, C., Des Portes, V., Jardini, T., Levine, R., et al. (2003) · The American Journal of Human Genetics · doi:10.1086/374321 · Cited by 762
Self-citationPenetrance of the Fragile X–Associated Tremor/Ataxia Syndrome in a Premutation Carrier Population
Jacquemont, S. (2004) · JAMA · doi:10.1001/jama.291.4.460 · Cited by 695
Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers
Greco, C. M. (2002) · Brain · doi:10.1093/brain/awf184 · Cited by 560
Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS)
Greco, C. M., Berman, R. F., Martin, R. M., Tassone, F., Schwartz, P. H., Chang, A., Trapp, B. D., Iwahashi, C., Brunberg, J., Grigsby, J., et al. (2006) · Brain · doi:10.1093/brain/awh683 · Cited by 536
Self-citationThe Fragile-X Premutation: A Maturing Perspective
Hagerman, P. J., & Hagerman, R. J. (2004) · The American Journal of Human Genetics · doi:10.1086/386296 · Cited by 520
Self-citationAllingham-Hawkins, D. J., Babul-Hirji, R., Chitayat, D., Holden, J. J. A., Yang, K. T., Lee, C., Hudson, R., Gorwill, H., Nolin, S. L., Glicksman, A., et al. (1999) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19990402)83:4<322::aid-ajmg17>3.0.co;2-b · Cited by 502
Association of FMR1 repeat size with ovarian dysfunction
Sullivan, A. K., Marcus, M., Epstein, M. P., Allen, E. G., Anido, A. E., Paquin, J. J., Yadav-Shah, M., & Sherman, S. L. (2005) · Human Reproduction · doi:10.1093/humrep/deh635 · Cited by 498
Bjoro, T., Holmen, J., Kruger, O., Midthjell, K., Hunstad, K., Schreiner, T., Sandnes, L., & Brochmann, H. (2000) · European Journal of Endocrinology · doi:10.1530/eje.0.1430639 · Cited by 464
Cited by
Nelson, L. M. (2009) · New England Journal of Medicine · doi:10.1056/nejmcp0808697 · Cited by 1,158
Hagerman, R. J., Berry-Kravis, E., Hazlett, H. C., Bailey, D. B., Moine, H., Kooy, R. F., Tassone, F., Gantois, I., Sonenberg, N., Mandel, J. L., et al. (2017) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2017.65 · Cited by 838
Self-citationAdvances in the Treatment of Fragile X Syndrome
Hagerman, R. J., Berry-Kravis, E., Kaufmann, W. E., Ono, M. Y., Tartaglia, N., Lachiewicz, A., Kronk, R., Delahunty, C., Hessl, D., Visootsak, J., et al. (2009) · Pediatrics · doi:10.1542/peds.2008-0317 · Cited by 596
Self-citationHagerman, R., & Hagerman, P. (2013) · The Lancet Neurology · doi:10.1016/s1474-4422(13)70125-x · Cited by 313
Self-citationFragile X and autism: intertwined at the molecular level leading to targeted treatments
Hagerman, R., Hoem, G., & Hagerman, P. (2010) · Molecular Autism · doi:10.1186/2040-2392-1-12 · Cited by 247
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Metadata
- Authors
- 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.
- Venue
- American Journal of Medical Genetics Part A
- Publisher
- Wiley
- Published
- 2008-03-17
- Volume
- 146A
- Issue
- 8
- Pages
- 1009-1016
- ISSN
- 1552-4825 (ISSN-L)
- 1552-4833
- OpenAlex
- W2041086236
- Cited by
- 351
- References
- 48
- FWCI
- 22.50
- Type
- journal article
- Language
- en
- Open access
- bronze
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- 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 FMR1 premutation. American Journal of Medical Genetics Part A. https://doi.org/10.1002/ajmg.a.32060
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