Advances in understanding the molecular basis of FXTAS
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Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder among carriers of premutation expansions (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene. The clinical features of FXTAS, as well as other forms of clinical involvement in carriers without FXTAS, are thought to arise from a toxic gain of function of transcriptionally active FMR1 containing expanded CGG repeats. Although the precise mechanisms involved in rCGG toxicity are unknown, here we discuss the latest advances and models that contribute to the understanding of the molecular basis of FXTAS, and the emerging view of FXTAS as the end-stage of a process that begins in early development.
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FXTAS affects approximately 46% of male and 17% of female adult premutation carriers.
“FXTAS (Figure 1) has been reported to affect approximately 46% of male and 17% of female adult carriers (28).”
From Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics (2012) · cites this paper as [28]
FXTAS is a recently identified neurodegenerative disorder seen in premutation carriers.
“The neurological problems described above are associated with a recently identified neurodegenerative disorder seen in PM carriers, the fragile X-associated tremor ataxia syndrome (FXTAS) (28).”
From Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics (2012) · cites this paper as [28]
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Soontarapornchai, K., Maselli, R. A., Fenton, G., Tassone, F., Hagerman, P. J., Hessl, D. R., & Hagerman, R. J. (2008) · Archives of Neurology · doi:10.1001/archneur.65.4.495 · Cited by 74 · see citing works
Self-citationFragile X–Associated Tremor/Ataxia Syndrome
Amiri, K. M. A., Hagerman, R. J., & Hagerman, P. J. (2008) · Archives of Neurology · doi:10.1001/archneurol.2007.30 · Cited by 73 · see citing works
Self-citationWenzel, H. J., Hunsaker, M. R., Greco, C., Willemsen, R., & Berman, R. F. (2010) · Brain Research · doi:10.1016/j.brainres.2009.12.077 · Cited by 67 · see citing works
Psychological symptoms correlate with reduced hippocampal volume in fragile X premutation carriers
Adams, P. E., Adams, J. S., Nguyen, D. V., Hessl, D. R., Brunberg, J. A., Tassone, F., Zhang, W., Koldewyn, K., Rivera, S. M., Grigsby, J., et al. (2009) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.31046 · Cited by 65 · see citing works
Self-citationBrouwer, J. R., Severijnen, E., de Jong, F. H., Hessl, D. R., Hagerman, R. J., Oostra, B. A., & Willemsen, R. (2008) · Psychoneuroendocrinology · doi:10.1016/j.psyneuen.2008.03.011 · Cited by 65 · see citing works
Mouse Models of Fragile X-Associated Tremor Ataxia
Berman, R. F., & Willemsen, R. (2009) · Journal of Investigative Medicine · doi:10.2310/jim.0b013e3181af59d6 · Cited by 52 · see citing works
Iwanaga, K., Sueoka, N., Sato, A., et al. (2005) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2005.05.180 · Cited by 43 · see citing works
Argonaute-2-dependent rescue of a Drosophila model of FXTAS by FRAXE premutation repeat
Sofola, O. A., Jin, P., Botas, J., et al. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm186 · Cited by 43 · see citing works
Dysfunction of lamin A triggers a DNA damage response and cellular senescence
Lees‐Miller, S. P. (2005) · DNA repair · doi:10.1016/j.dnarep.2005.10.007 · Cited by 26 · see citing works
Jenkins, E. C., Tassone, F., Ye, L., Gu, H., Xi, M., Velinov, M. T., Brown, W. T., Hagerman, R. J., & Hagerman, P. J. (2008) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32342 · Cited by 20 · see citing works
Self-citation
Flagged first, then by citations
Research works printed but not linked: 1
- Bourgeois, J.A., Coffey, S.M., Rivera, S.M., Hessl, D., Gane, L.W., Tassone, F., Greco, C., Finucane, B., Nelson, L., Berry-Kravis, E. et al. R86 Human Molecular Genetics, 2010, Vol. 19, Review Issue 1 Downloaded from https://academic.oup.com/hmg/article/19/R1/R83/625139 by guest on 13 August 2023 (2009)
Cited by
Sorted by citations
Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics
Bagni, C., Tassone, F., Neri, G., & Hagerman, R. (2012) · Journal of Clinical Investigation · doi:10.1172/jci63141 · Cited by 321 · see citing works
Fragile 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 · see citing works
Self-citationCGG repeat in the FMR1 gene: size matters
Willemsen, R., Levenga, J., & Oostra, B. (2011) · Clinical Genetics · doi:10.1111/j.1399-0004.2011.01723.x · Cited by 184 · see citing works
Lozano, R., Rosero, C. A., & Hagerman, R. J. (2014) · Intractable & Rare Diseases Research · doi:10.5582/irdr.2014.01022 · Cited by 186 · see citing works
FMR1 premutation and full mutation molecular mechanisms related to autism
Hagerman, R., Au, J., & Hagerman, P. (2011) · Journal of Neurodevelopmental Disorders · doi:10.1007/s11689-011-9084-5 · Cited by 85 · see citing works
Self-citation
- Authors
- Garcia-Arocena, D., & Hagerman, P. J.
- Affiliations
- University of California, Davis (US)
- Corresponding author
- Hagerman, P. J.
- ORCID
- Hagerman, P. J.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2010-04-15
- Volume
- 19
- Issue
- R1
- Pages
- R83-R89
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- PMC
- PMC2875053
- OpenAlex
- W2124286401
- Cited by
- 136
- References
- 94
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 5 · 2023: 1 · 2022: 8 · 2021: 1 · 2020: 4 · 2019: 7 · 2018: 3 · 2017: 6 · 2016: 12 · 2015: 5 · 2014: 15 · 2013: 14 · 2012: 19
- FWCI
- 2.27
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Human Molecular Genetics (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health (HD040661)
- National Institute on Aging (RL1AG032119)
- National Institute of Dental and Craniofacial Research (UL1DE019583, UL1 DE19583)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD040661)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
- Keywords
- fragile X-associated tremor/ataxia syndrome, FMR1 gene, CGG repeat expansion, premutation, gain-of-function, neurodegeneration, molecular mechanisms, disease models, fragile X syndrome
- MeSH terms
- Fragile X Syndrome, Humans, RNA, Tremor, Fragile X Messenger Ribonucleoprotein 1, Fragile X Mental Retardation Protein
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
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