Symptoms of Tremor In Women With the FMR1 Premutation

Fragile X Syndrome is a genetic disorder caused by a mutation on the X chromosome and is known to be one of the leading causes of autism. Our research dealt with carriers of the Fragile X Mental Retardation 1 (FMR1) premutation, or, more specifically, the mothers of children with Fragile X Syndrome (FXS) because they are known carriers of the FMR1 premutation. In our research, we examined tremor symptoms and early onset symptoms of Fragile X-associated tremor/ataxia syndrome (FXTAS) in middle-aged women. FXTAS is a neurodegenerative disorder that can occur in people with the FMR1 premutation. It is most often seen in the grandfathers of children with fragile X syndrome. We had mothers of children with FXS, mothers of children with autism, and mothers of typically developing children fill out a questionnaire in which they ranked their functional tremor symptoms. Based on the results of these surveys, we created boxplots and ran them through a negative binomial model. The model found there to be no significant differences. The data shows that there were no increased tremor symptoms among the groups of women. As our participant groups were limited in size, future research may find more conclusive results upon examination of larger groups of participants, as well as older women