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Reply to comment on “A series of cases with Huntington-like phenotype and intermediate repeats in HTT” by Acuña and colleagues

  • Manuel Menéndez-González
    Correspondence
    Corresponding author at: Department of Medicine, Universidad de Oviedo, Oviedo, Spain
    Affiliations
    Department of Medicine, Universidad de Oviedo, Oviedo, Spain

    Department of Neurology, Hospital Universitario Central de Asturias, Oviedo, Spain

    Instituto de Investigación Sanitaria del Principado de Asturias, Oviedo, Spain
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Published:September 05, 2022DOI:https://doi.org/10.1016/j.jns.2022.120410
      We appreciate the interest in our article “A series of cases with Huntington-like phenotype and intermediate repeats in HTT”. Commenting on it, Prof. Saft et cols. argue it is dangerous for patients to diagnose HD too quickly without a full diagnostic workup [
      • Saft C.
      • Achenbach J.
      • Nguyen H.P.
      • Seppi K.
      Comment on “A series of cases with Huntington-like phenotype and intermediate repeats in HTT”.
      ]. It seems Prof Saft et cols. have misunderstood some points of the article because we have not made a diagnosis of Huntington's disease (HD) in any of the cases included in this series. Quite the contrary, we explicitly explain that such a diagnosis cannot be made in these cases, as they do not meet the clinical, genetic, or neuropathologic diagnostic criteria of HD; and that many other diagnoses need to be considered. We acknowledge in the paper the diagnostic workup is not as complete and comprehensive as we would have liked, as it is a retrospective report where we had to deal with the information available in the records for each case under real clinical practice conditions, not under systematic comprehensive diagnostic workups or under research protocols.

      Keywords

      Abbreviations:

      IA (Intermediate alleles), HD (Huntington's disease)
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