We thank Dr Leehey for her comments on our article,1 which have raised several important and controversial aspects of this disorder and have provided us with the opportunity to clarify some points of discussion. We are aware that fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X syndrome (FXS) are 2 different disorders, and we agree that fragile X-associated tremor/ataxia syndrome represents the correct nomenclature referring to the neurodegenerative late-onset disorder we previously described in our patients.1 Thus, this terminology should be used throughout to avoid ambiguity. In addition, given the vast number of eponyms and acronyms2 for FMR1 gene–related conditions and the possibility of causing confusion in nonspecific contexts, a consensus document dealing with this aspect would be beneficial.
Cellini E, Forleo P, Ginestroni A, et al. Fragile X Syndrome vs Fragile X–Associated Tremor/Ataxia Syndrome—Reply. Arch Neurol. 2007;64(2):289–290. doi:https://doi.org/10.1001/archneur.64.2.289-b
Customize your JAMA Network experience by selecting one or more topics from the list below.
Create a personal account or sign in to: