References: The Fragile X Premutation, FXTAS and FXPOI

Fragile X Premutation

Dorn, M. B., Mazzocco, M. M., & Hagerman, R. J. (1994). Behavioral and psychiatric disorders in adult male carriers of fragile X. Journal of the American Academy of Child & Adolescent Psychiatry, 33, 256-264. 

Freund, L. S., Reiss, A. L., Hagerman, R., & Vinogradov, S. (1992). Chromosome fragility and psychopathology in obligate female carriers of the fragile X chromosome. Archives of General Psychiatry, 49, 54-60. 

Goodlin-Jones, B. L., Tassone, F., Gane, L. W., & Hagerman, R. J. (2004). Autistic spectrum disorder and the fragile X premutation. Journal of Developmental & Behavioral Pediatrics, 25, 392-398. 

Hagerman RJ, Protic D, Rajaratnam A, Salcedo-Arellano MJ, Aydin EY, Schneider A. Fragile X-Associated Neuropsychiatric Disorders (FXAND). Front Psychiatry. 2018;9:564. Published 2018 Nov 13. 

Hagerman, P. J. & Hagerman, R. J. (2004). The fragile-X premutation: A maturing perspective. American Journal of Human Genetics, 74, 805-816. 

Hagerman, R. J. & Hagerman, P. J. (2002). The fragile X premutation: Into the phenotypic fold. Current Opinion in Genetics & Development, 12, 278-283. 

Hagerman, R. J., Staley, L. W., O'Conner, R., Lugenbeel, K., Nelson, D., McLean, S. D., & Taylor, A. (1996). Learning-disabled males with a fragile X CGG expansion in the upper premutation size range. Pediatrics, 97, 122-126. 

Mazzocco, M. M., Pennington, B. F., & Hagerman, R. J. (1993). The neurocognitive phenotype of female carriers of fragile X: Additional evidence for specificity. Journal of Developmental & Behavioral Pediatrics, 14, 328-335. 

Mazzocco, M. M., Pennington, B. F., & Hagerman, R. J. (1994). Social cognition skills among females with fragile X. Journal of Autism & Developmental Disorders, 24, 473-485. 

Moore, C. J., Daly, E. M., Schmitz, N., Tassone, F., Tysoe, C., Hagerman, R. J., Hagerman, P. J., Morris, R. G., Murphy, K. C., & Murphy, D. G. (2004). A neuropsychological investigation of male premutation carriers of fragile X syndrome. Neuropsychologia, 42, 1934-1947. 

Moore, C. J., Daly, E. M., Tassone, F., Tysoe, C., Schmitz, N., Ng, V., Chitnis, X., McGuire, P., Suckling, J., Davies, K. E., Hagerman, R. J., Hagerman, P. J., Murphy, K. C., & Murphy, D. G. (2004). The effect of pre-mutation of X chromosome CGG trinucleotide repeats on brain anatomy. Brain, 127, 2672-2681. 

Primerano, B., Tassone, F., Hagerman, R. J., Hagerman, P., Amaldi, F., & Bagni, C. (2002). Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations. RNA-A Publication of the RNA Society, 8, 1482-1488. 

Reiss, A. L., Hagerman, R. J., Vinogradov, S., Abrams, M., & King, R. J. (1988). Psychiatric disability in female carriers of the fragile X chromosome. Archives of General Psychiatry, 45, 25-30. 

Schwartz, C. E., Dean, J., Howard-Peebles, P. N., Bugge, M., Mikkelsen, M., Tommerup, N., Hull, C., Hagerman, R., Holden, J. J., & Stevenson, R. E. (1994). Obstetrical and gynecological complications in fragile X carriers: A multicenter study. American Journal of Medical Genetics, 51, 400-402. 

Tassone, F., Hagerman, R. J., Taylor, A. K., Gane, L. W., Godfrey, T. E., & Hagerman, P. J. (2000). Elevated levels of FMR1 mRNA in carrier males: A new mechanism of involvement in the fragile-X syndrome. American Journal of Human Genetics, 66, 6-15. 

Tassone, F., Hagerman, R. J., Taylor, A. K., Mills, J. B., Harris, S. W., Gane, L. W., & Hagerman, P. J. (2000). Clinical involvement and protein expression in individuals with the FMR1 premutation. American Journal of Medical Genetics, 91, 144-152. 

Taylor, A. K., Safanda, J. F., Fall, M. Z., Quince, C., Lang, K. A., Hull, C. E., Carpenter, I., Staley, L. W., & Hagerman, R. J. (1994). Molecular predictors of cognitive involvement in female carriers of fragile X syndrome. Journal of the American Medical Association, 271, 507-514.

Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)

Berry-Kravis, E., Lewin, F., Wuu, J., Leehey, M., Hagerman, R., Hagerman, P., & Goetz, C. G. (2003). Tremor and ataxia in fragile X premutation carriers: Blinded videotape study. Annals of Neurology, 53, 616-623. 

Brunberg, J. A., Jacquemont, S., Hagerman, R. J., Berry-Kravis, E. M., Grigsby, J., Leehey, M. A., Tassone, F., Brown, W. T., Greco, C. M., & Hagerman, P. J. (2002). Fragile X premutation carriers: Characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction. AJNR: American Journal of Neuroradiology, 23, 1757-1766. 

Greco, C. M., Hagerman, R. J., Tassone, F., Chudley, A. E., Del Bigio, M. R., Jacquemont, S., Leehey, M., & Hagerman, P. J. (2002). Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers. Brain, 125, 1760-1771. 

Hagerman RJ, Hagerman P. Fragile X-associated tremor/ataxia syndrome - features, mechanisms and management. Nat Rev Neurol. 2016;12(7):403‐412.
Hagerman, P. J., Greco, C. M., & Hagerman, R. J. (2003). A cerebellar tremor/ataxia syndrome among fragile X premutation carriers. Cytogenetic & Genome Research, 100, 206-212. 

Hagerman, P. J. & Hagerman, R. J. (2004). Fragile X-associated tremor/ataxia syndrome (FXTAS). Mental Retardation & Developmental Disabilities Research Reviews, 10, 25-30. 

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. American Journal of Human Genetics, 74, 1051-1056. 

Hagerman, R. J., Leehey, M., Heinrichs, W., Tassone, F., Wilson, R., Hills, J., Grigsby, J., Gage, B., & Hagerman, P. J. (2001). Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology, 57, 127-130. 

Hall DA, Birch RC, Anheim M, et al. Emerging topics in FXTAS [published correction appears in J Neurodev Disord. 2015;7(1):13]. J Neurodev Disord. 2014;6(1):31. doi:10.1186/1866-1955-6-31
Jacquemont, S., Farzin, F., Hall, D., Leehey, M., Tassone, F., Gane, L., Zhang, L., Grigsby, J., Jardini, T., Lewin, F., Berry-Kravis, E., Hagerman, P. J., & Hagerman, R. J. (2004). Aging in individuals with the FMR1 mutation. American Journal of Mental Retardation, 109, 154-164. 

Jacquemont, S., Hagerman, R. J., Leehey, M., Grigsby, J., Zhang, L., Brunberg, J. A., Greco, C., Des, P., V, Jardini, T., Levine, R., Berry-Kravis, E., Brown, W. T., Schaeffer, S., Kissel, J., Tassone, F., & Hagerman, P. J. (2003). Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. American Journal of Human Genetics, 72, 869-878. 

Jacquemont, S., Hagerman, R. J., 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. Journal of the American Medical Association, 291, 460-469. 

Leehey, M. A., Munhoz, R. P., Lang, A. E., Brunberg, J. A., Grigsby, J., Greco, C., Jacquemont, S., Tassone, F., Lozano, A. M., Hagerman, P. J., & Hagerman, R. J. (2003). The fragile X premutation presenting as essential tremor. Archives of Neurology, 60, 117-121. 

Tassone, F., Hagerman, R. J., Garcia-Arocena, D., Khandjian, E. W., Greco, C. M., & Hagerman, P. J. (2004). Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome. Journal of Medical Genetics, 41, e43.

Fragile X Premature Ovarian insufficiency (FXPOI)

Fink DA, Nelson LM, Pyeritz R, et al. Fragile X Associated Primary Ovarian Insufficiency (FXPOI): Case Report and Literature Review. Front Genet. 2018;9:529. Published 2018 Nov 27. 

Hipp HS, Charen KH, Spencer JB, Allen EG, Sherman SL. Reproductive and gynecologic care of women with fragile X primary ovarian insufficiency (FXPOI). Menopause. 2016;23(9):993‐999.

Sullivan SD, Welt C, Sherman S. FMR1 and the continuum of primary ovarian insufficiency. Semin Reprod Med. 2011;29(4):299‐307. doi:10.1055/s-0031-1280915

Voorhuis M, Onland-Moret NC, Janse F, et al. The significance of fragile X mental retardation gene 1 CGG repeat sizes in the normal and intermediate range in women with primary ovarian insufficiency. Hum Reprod. 2014;29(7):1585‐1593.