Seritan, A.L; Ortigas, M.; Seritan, S.; Bourgeois, J.A.; Hagerman, R.J.
Curr. Psychiatric Rev., 2013, 9, 59-64
This paper was a review of the psychiatric disorders associated with Fragile X Tremor/Ataxia Syndrome (FXTAS), which is a fairly recently discovered neurodegenerative disease. FXTAS is one of three known Fragile X disorders, which also include Fragile X Primary Ovarian Insufficiency (FXPOI) and Fragile X Syndrome (FXS). All three disorders are caused by a mutation in the Fragile X mental retardation 1 (FMR1) gene on the X chromosome that causes an abnormally long sequence of CGG repeats. FXTAS is classed as a premutation and is characterized by 50 – 200 CGG repeats, while FXS has over 200 repeats. Since the FMR1 gene is located on the X chromosome, males are significantly more affected by FXTAS and FXS than females are; however, females carriers of the premutation can develop FXPOI.
The majority of the literature of FXTAS focuses on adult males since the sample size is much larger; however, I did find and review 5 sources that studied the behavioral challenges faced by young boys with FXTAS and 3 sources that studied young girls who were affected by FXPOI. The section of the paper titled Psychiatric Manifestations in Young Premutation Carriers is based on my literature review.