Fragile X-associated tremor ataxia syndrome (FXTAS) is a neurodegenerative disorder affecting a proportion of older adults who carry a moderate expansion (also known as a ‘premutation’) of the Fragile X gene. Symptoms of FXTAS include problems with balance, coordination, memory and thinking skills. We performed detailed memory and balance tests with adults who carry the fragile X premutation to determine the effect of the gene expansion on their health. Further Information
Publications related to this project
Cvejic, R. C., Hocking, D. R., Wen, W., Georgiou-Karistianis, N., Cornish, K. M., Godler, D. E., Rogers, C., & Trollor, J. N. (2019). Reduced caudate volume and cognitive slowing in men at risk of fragile X-associated tremor ataxia syndrome. Brain Imaging and Behavior, 13(4): 1128-1134, doi: 10.1007/s11682-018-9928-7.
Birch, R. C., Cohen, J., & Trollor, J. N. (2017). Fragile X-associated disorders: Don’t miss them. The Australian Family Physician, 46(7): 487-491.
Birch, R. C., & Trollor, J. N. Action tremor, impaired balance, and executive function in mid-life (2017). JAMA Neurology, 74(5): 603-4. doi: 10.1001/jamaneurol.2016.4063.
Birch, R. C., Hocking, D. R., Cornish, K. M., Menant, J. C., Lord, S. R., Georgiou-Karistianis, N., Godler, D. E., Wen, W., Rogers, C., & Trollor, J. N. (2017). Selective subcortical contributions to gait impairments in males with the FMR1 premutation. Journal of Neurology, Neurosurgery & Psychiatry, 88(2): 188-190. doi: 10.1136/jnnp-2016-313937.
Hocking, D. R., Birch, R. C., Bui, M., Menant, J. C., Lord, S. R., Georgiou-Karistianis, N., Godler, D. E., Wen, W., Hackett, A., Rogers, C., & Trollor, J. N. (2017). Cerebellar volume mediates relationship between mRNA levels and step initiation in premutation males. Neurobiology of Aging. 50: 5-12. doi: 10.1016/j.neurobiolaging.2016.10.017.
Birch, R. C., & Trollor, J. N. (2016) Thinking and motor skills in individuals who carry premutation expansions of the fragile X gene. Australian Journal of Dementia Care, 5(4): 21-22.
Birch, R. C., Hocking, D. R., & Trollor, J. N. Prevalence and predictors of subjective memory complaints in adult male carriers of the FMR1 premutation (2016). The Clinical Neuropsychologist, 30(6): 834-48. doi: 10.1080/13854046.2016.1145905.
Birch, R. C., Hocking, D. R., Cornish, K. M., Menant, J. C., Georgiou-Karistianis, N., Godler, D., Wen, W., Hackett, A., Rogers, C., & Trollor, J. N. (2015). Preliminary evidence of an effect of cerebellar volume on postural sway in FMR1 premutation males. Genes, Brain and Behavior, 14(3): 251-9. doi: 10.1111/gbb.12204.
Hall, D. A., Birch, R. C., Anheim, M., Jonch, A. E., Pintadio, E., O’Keefe, J., Trollor, J. N., Stebbins, G. T., Hagerman, R. J., Fahn, S., Berry-Kravis, E., & Leehey, M. A. (2014). Emerging topics in FXTAS. Journal of Neurodevelopmental Disorders, 6(1):31. doi: 10.1186/1866-1955-6-31.
Birch, R. C., Cornish, K. M., Hocking, D. R., Trollor, J. N. (2014). Understanding the neuropsychiatric phenotype of fragile X-associated tremor ataxia syndrome: a systematic review. Neuropsychology Review, 24(4): 491-513. doi: 10.1007/s11065-014-9262-9.
