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We thank Motoki et al.1 for completing the information about the workup; we agree with the final conclusion that FMR1 premutation would be necessary to distinguish these disorders. However, we do not share the opinion that the absence of the typical MRI findings of T2 signal hyperintensity in middle cerebellar peduncles (MCPs), the lack of ataxia, or neurodegenerative disorders in family history lead to exclude clinically fragile X-associated tremor/ataxia syndrome (FXTAS; FMR1 gene premutation) in favor of a neuronal intranuclear inclusion disease diagnosis in this patient. Despite that the MCP hyperintensity was postulated as 1 major criterion of FXTAS,2 the mentioned criteria need revision,3 because of the phenotypic variability of premutation carriers, that ranges from mild tremor and cognitive impairment to ataxia with or without typical MRI findings, even associated non-neurologic disorders.
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Author disclosures are available upon request (journal{at}neurology.org).
- © 2019 American Academy of Neurology
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