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Elena Cellini, PhD; Paolo Forleo, MD; Andrea Ginestroni, MD; Benedetta Nacmias, PhD; Andrea Tedde, PhD; Silvia Bagnoli, PhD; Silvia Piacentini, MD; Mario Mascalchi, MD; Sandro Sorbi, MD

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In reply

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.

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RELATED LETTER

Fragile X Syndrome vs Fragile X–Associated Tremor/Ataxia Syndrome
Maureen A. Leehey, Randi J. Hagerman, and Paul J. Hagerman
Arch Neurol. 2007;64(2):289.
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