The DOI matches its Crossref record; 87 of the 87 references it cites were found in a registry or an index.
Fragile X‐associated tremor/ataxia syndrome: Clinical features, genetics, and testing guidelines
Open accessAbstract
Fragile X‐associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder with core features of action tremor and cerebellar gait ataxia. Frequent associated findings include parkinsonism, executive function deficits and dementia, neuropathy, and dysautonomia. Magnetic Resonance Imaging studies in FXTAS demonstrate increased T2 signal intensity in the middle cerebellar peduncles (MCP sign) in the majority of patients. Similar signal alterations are seen in deep and subependymal cerebral white matter, as is general cortical and subcortical atrophy. The major neuropathological feature of FXTAS is the presence of intranuclear, neuronal, and astrocytic, inclusions in broad distribution throughout the brain and brainstem. FXTAS is caused by moderate expansions (55–200 repeats; premutation range) of a CGG trinucleotide in the fragile X mental retardation 1 (FMR1) gene, the same gene which causes fragile X syndrome when in the full mutation range (200 or greater CGG repeats). The pathogenic mechanism is related to overexpression and toxicity of the FMR1 mRNA per se. Although only recently discovered, and hence currently under‐diagnosed, FXTAS is likely to be one of the most common single‐gene disorders leading to neurodegeneration in males. In this report, we review information available on the clinical, radiological, and pathological features, and prevalence and management of FXTAS. We also provide guidelines for the practitioner to assist with identifying appropriate patients for DNA testing for FXTAS, as well as recommendations for genetic counseling once a diagnosis of FXTAS is made. © 2007 Movement Disorder Society
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Verkerk, A. J. M. H., Pieretti, M., Sutcliffe, J. S., Fu, Y.-H., Kuhl, D. P. A., Pizzuti, A., Reiner, O., Richards, S., Victoria, M. F., Zhang, F., et al. (1991) · Cell · doi:10.1016/0092-8674(91)90397-h · Cited by 3,481
The mGluR theory of fragile X mental retardation
Bear, M. F., Huber, K. M., & Warren, S. T. (2004) · Trends in Neurosciences · doi:10.1016/j.tins.2004.04.009 · Cited by 1,580
Absence of expression of the FMR-1 gene in fragile X syndrome
Pieretti, M., Zhang, F., Fu, Y.-H., Warren, S. T., Oostra, B. A., Caskey, C. T., & Nelson, D. L. (1991) · Cell · doi:10.1016/0092-8674(91)90125-i · Cited by 1,476
Consensus statement on the diagnosis of multiple system atrophy
Gilman, S., Low, P., Quinn, N., Albanese, A., Ben-Shlomo, Y., Fowler, C., Kaufmann, H., Klockgether, T., Lang, A., Lantos, P., et al. (1998) · Clinical Autonomic Research · doi:10.1007/bf02309628 · Cited by 1,308
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-citationConsensus statement on the diagnosis of multiple system atrophy
Gilman, S., Low, P. A., Quinn, N., Albanese, A., Ben-Shlomo, Y., Fowler, C. J., Kaufmann, H., Klockgether, T., Lang, A. E., Lantos, P. L., et al. (1999) · Journal of the Neurological Sciences · doi:10.1016/s0022-510x(98)00304-9 · Cited by 917
Devys, D., Lutz, Y., Rouyer, N., Bellocq, J.-P., & Mandel, J.-L. (1993) · Nature Genetics · doi:10.1038/ng0893-335 · Cited by 780
Tassone, 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
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Second consensus statement on the diagnosis of multiple system atrophy
Gilman, S., Wenning, G. K., Low, P. A., Brooks, D. J., Mathias, C. J., Trojanowski, J. Q., Wood, N. W., Colosimo, C., Dürr, A., Fowler, C. J., et al. (2008) · Neurology · doi:10.1212/01.wnl.0000324625.00404.15 · Cited by 3,140
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-citationClinical Approach to Parkinson's Disease: Features, Diagnosis, and Principles of Management
Massano, J., & Bhatia, K. P. (2012) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a008870 · Cited by 422
Expanded clinical phenotype of women with the FMR1 premutation
Coffey, S. M., Cook, K., Tartaglia, N., Tassone, F., Nguyen, D. V., Pan, R., Bronsky, H. E., Yuhas, J., Borodyanskaya, M., Grigsby, J., et al. (2008) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32060 · Cited by 351
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Metadata
- Authors
- Berry‐Kravis, E., Abrams, L., Coffey, S. M., Hall, D. A., Greco, C., Gane, L. W., Grigsby, J., Bourgeois, J. A., Finucane, B., Jacquemont, S., Brunberg, J. A., Zhang, L., Lin, J., Tassone, F., Hagerman, P. J., Hagerman, R. J., & Leehey, M. A.
- Venue
- Movement Disorders
- Publisher
- Wiley
- Published
- 2007-07-06
- Volume
- 22
- Issue
- 14
- Pages
- 2018-2030
- ISSN
- 0885-3185 (ISSN-L)
- 1531-8257
- OpenAlex
- W2122033671
- Cited by
- 331
- References
- 87
- FWCI
- 9.43
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Berry‐Kravis, E., Abrams, L., Coffey, S. M., Hall, D. A., Greco, C., Gane, L. W., Grigsby, J., Bourgeois, J. A., Finucane, B., Jacquemont, S., Brunberg, J. A., Zhang, L., Lin, J., Tassone, F., Hagerman, P. J., Hagerman, R. J., & Leehey, M. A. (2007). Fragile X‐associated tremor/ataxia syndrome: Clinical features, genetics, and testing guidelines. Movement Disorders. https://doi.org/10.1002/mds.21493
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