Fragile X-Associated Neuropsychiatric Disorders (FXAND)
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Neuropsychiatric disorders are the most common problems associated with the premutation, and they affect approximately 50% of individuals with 55 to 200 CGG repeats in the FMR1 gene. Neuropsychiatric disorders in children with the premutation include anxiety, ADHD, social deficits, or autism spectrum disorders (ASD). In adults with the premutation, anxiety and depression are the most common problems, although obsessive compulsive disorder, ADHD, and substance abuse are also common. These problems are often exacerbated by chronic fatigue, chronic pain, fibromyalgia, autoimmune disorders and sleep problems, which are also associated with the premutation. Here we review the clinical studies, neuropathology and molecular underpinnings of RNA toxicity associated with the premutation. We also propose the name Fragile X-associated Neuropsychiatric Disorders (FXAND) in an effort to promote research and the use of fragile X DNA testing to enhance recognition and treatment for these disorders.
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A tandem repeat-related gene can contribute to multiple clinically distinct conditions.
“A given tandem repeat-related gene can contribute to a variety of clinically distinct conditions.”
From Genome-wide detection of tandem DNA repeats that are expanded in autism (2020) · cites this paper as [29]
The FMR1 CGG tract has been linked to fragile X syndrome, fragile X premature ovarian insufficiency, fragile X associated ataxia, endocrine, autoimmune, metabolic disease, and ASD.
“the unstable CGG tract of FMR1 has been linked to intellectual delay in fragile X syndrome, fragile X premature ovarian insufficiency, fragile X associated ataxia, endocrine, autoimmune, metabolic disease, and ASD29.”
From Genome-wide detection of tandem DNA repeats that are expanded in autism (2020) · cites this paper as [29]
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Self-citationGossett, A., Sansone, S. M., Schneider, A., Johnston, C. K., Hagerman, R. J., Tassone, F., Rivera, S. M., Seritan, A. L., & Hessl, D. R. (2016) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32496 · Cited by 34 · see citing works
Self-citationAugustyniak, J., Lenart, J., Zychowicz, M., Stępień, P. P., & Bużańska, L. (2017) · Biogerontology · doi:10.1007/s10522-017-9718-4 · Cited by 34 · see citing works
Abnormal GABA-mediated and cerebellar inhibition in women with the fragile X premutation
Conde, V., Palomar, F. J., Lama, M. J., Martínez, R. V., Carrillo, F., Pintado, E., & Mir, P. (2012) · Journal of Neurophysiology · doi:10.1152/jn.00730.2012 · Cited by 32 · see citing works
Towards An Understanding of Neuropsychiatric Manifestations In Fragile X Premutation Carriers
Besterman, A. D., Wilke, S. A., Mulligan, T.-E., Allison, S. C., Hagerman, R. J., Seritan, A. L., & Bourgeois, J. A. (2014) · Future Neurology · doi:10.2217/fnl.14.11 · Cited by 30 · see citing works
Self-citationPlasma Biomarkers for Monitoring Brain Pathophysiology in FMR1 Premutation Carriers
Giulivi, C., Napoli, E., Tassone, F., Halmai, J. A. N. M., & Hagerman, R. J. (2016) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2016.00071 · Cited by 29 · see citing works
Self-citationImmune mediated disorders in women with a fragile X expansion and FXTAS
Jalnapurkar, I. R., Rafika, N., Tassone, F., et al. (2014) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36748 · Cited by 28 · see citing works
Developmental profiles of infants with an FMR1 premutation
Wheeler, A., Sideris, J. H., Hagerman, R. J., Berry‐Kravis, E., Tassone, F., & Bailey, D. B. (2016) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-016-9171-8 · Cited by 28 · see citing works
Self-citationFragile X–Associated Tremor/Ataxia Syndrome in a Man in His 30s
Martínez-Cerdeño, V., Lechpammer, M., Lott, A., et al. (2015) · JAMA Neurology · doi:10.1001/jamaneurol.2015.1138 · Cited by 27 · see citing works
Napoli, E., Ross‐Inta, C., Song, G., Wong, S., Hagerman, R. J., Gane, L. W., Smilowitz, J. T., Tassone, F., & Giulivi, C. (2016) · Frontiers in Neuroscience · doi:10.3389/fnins.2016.00159 · Cited by 27 · see citing works
Self-citationFXTAS, FXPOI, and Other Premutation Disorders
Hall, D. A., & Tassone, F. (2016) · Springer eBooks · doi:10.1007/978-3-319-33898-9 · Cited by 27 · see citing works
Methadone use in a male with the FMRI premutation and FXTAS
Muzar, Z., Lozano, R., Schneider, A., Adams, P. E., Faradz, S. M., Tassone, F., & Hagerman, R. J. (2015) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.37030 · Cited by 23 · see citing works
Self-citationPsychiatric Disorders Associated with FXTAS
Seritan, A. L., Ortigas, M., Seritan, S., Bourgeois, J. A., & Hagerman, R. J. (2013) · Current Psychiatry Reviews · doi:10.2174/157340013805289699 · Cited by 23 · see citing works
Self-citationCognitive Dysfunction in FMR1 Premutation Carriers
Seritan, A. L., Cogswell, J. B., & Grigsby, J. (2013) · Current Psychiatry Reviews · doi:10.2174/157340013805289635 · Cited by 23 · see citing works
Phenobarbital use and neurological problems in FMR1 premutation carriers
Saldarriaga, W., Lein, P. J., González-Teshima, L. Y., Isaza, C., Rosa, L., Polyak, A., Hagerman, R. J., Girirajan, S., Silva, M., & Tassone, F. (2016) · NeuroToxicology · doi:10.1016/j.neuro.2016.01.008 · Cited by 21 · see citing works
Self-citationGeneral Anesthetic Use in Fragile X Spectrum Disorders
Ligsay, A., El-Deeb, M., Salcedo‐Arellano, M. J., Schloemerkemper, N., Grayson, J., & Hagerman, R. J. (2018) · Journal of Neurosurgical Anesthesiology · doi:10.1097/ana.0000000000000508 · Cited by 20 · see citing works
Self-citationTentindo, G. S., Fishman, S. M., Li, C., Wang, Q., & Brass, S. D. (2018) · Nature and Science of Sleep · doi:10.2147/nss.s167658 · Cited by 19 · see citing works
FMR1 genotype interacts with parenting stress to shape health and functional abilities in older age
Seltzer, M. M., Hong, J., Greenberg, J. S., DaWalt, L. S., Baker, M. W., & Rathouz, P. J. (2017) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32529 · Cited by 18 · see citing works
Psychiatric Features in High-Functioning Adult Brothers With Fragile X Spectrum Disorders
Schneider, A., Seritan, A. L., Tassone, F., Rivera, S. M., Hagerman, R. J., & Hessl, D. R. (2013) · The Primary Care Companion For CNS Disorders · doi:10.4088/pcc.12l01492 · Cited by 15 · see citing works
Self-citationFatigue and body mass index in the Fragile X premutation carrier
Summers, S. M., Cogswell, J. B., Goodrich, J. E., Mu, Y., Nguyen, D. V., Brass, S. D., & Hagerman, R. J. (2014) · Fatigue Biomedicine Health & Behavior · doi:10.1080/21641846.2014.881155 · Cited by 11 · see citing works
Self-citationLowell, E. P., Tonnsen, B. L., Bailey, D. B., & Roberts, J. E. (2017) · Journal of Intellectual Disability Research · doi:10.1111/jir.12409 · Cited by 11 · see citing works
Fentanyl overdose in a female with the FMR1 premutation and FXTAS.
El-Deeb, M., Adams, P. E., Schneider, A., et al. (2018) · PubMed · doi:10.31038/jmg.1000101 · Cited by 8 · see citing works
Self-citationMiller (1999) · doi:10.1002/(sici)1096-8628(19990402)83:4
Abbeduto (2004) · doi:10.1352/0895-8017(2004)109
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Genome-wide detection of tandem DNA repeats that are expanded in autism
Trost, B., Engchuan, W., Nguyen, C. M., Thiruvahindrapuram, B., Dolzhenko, E., Backstrom, I., Mirceta, M., Mojarad, B. A., Yin, Y., Dov, A., et al. (2020) · Nature · doi:10.1038/s41586-020-2579-z · Cited by 238 · see citing works
Using the tools of genetic epidemiology to understand sex differences in neuropsychiatric disorders
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Fragile X-associated tremor/ataxia syndrome: Pathophysiology and management
Hagerman, R., & Hagerman, P. (2021) · Current Opinion in Neurology · doi:10.1097/wco.0000000000000954 · Cited by 40 · see citing works
Self-citationFragile sites, chromosomal lesions, tandem repeats, and disease
Mirceta, M., Shum, N., Schmidt, M. H. M., & Pearson, C. E. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.985975 · Cited by 30 · see citing works
Winarni, T. I., Aishworiya, R., Culpepper, H., Zafarullah, M., Mendoza, G., Wilaisakditipakorn, T. J., Likhitweerawong, N., Law, J., Hagerman, R., & Tassone, F. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26072840 · Cited by 3 · see citing works
Self-citation
- Authors
- Hagerman, R. J., Protic, D., Rajaratnam, A., Salcedo-Arellano, M. J., Aydin, E. Y., & Schneider, A.
- Affiliations
- University of California Davis Medical Center (US)
- University of Belgrade (RS)
- Case Western Reserve University (US)
- Istanbul University (TR)
- Corresponding author
- Hagerman, Randi J.
- Venue
- Frontiers in Psychiatry
- Publisher
- Frontiers Media SA
- Published
- 2018-11-13
- Volume
- 9
- Pages
- 564-564
- ISSN
- 1664-0640 (ISSN-L)
- PMC
- PMC6243096
- OpenAlex
- W2901120330
- Cited by
- 204
- References
- 103
- Citations by year
- 2026: 17 · 2025: 23 · 2024: 33 · 2023: 24 · 2022: 29 · 2021: 37 · 2020: 28 · 2019: 12
- FWCI
- 2.69
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Frontiers in Psychiatry (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- eScholarship (California Digital Library) (submittedVersion, cc-by)
- Funders
- National Institute of Child Health and Human Development (R01 HD036071, U54 HD079125)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Life Sciences › Neuroscience › Developmental Neuroscience › Williams Syndrome Research
- Keywords
- fragile X premutation, CGG repeat expansion, FMR1 gene, RNA toxicity, anxiety, depression, autism spectrum disorder, attention deficit hyperactivity disorder, social dysfunction, neuropathology, chronic fatigue, fibromyalgia, sleep disorders, autoimmune disease, substance abuse
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