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Neurological Sciences

, Volume 39, Issue 6, pp 1015–1019 | Cite as

Long-term therapy with miglustat and cognitive decline in the adult form of Niemann-Pick disease type C: a case report

  • Stefano Tozza
  • Raffaele Dubbioso
  • Rosa Iodice
  • Antonietta Topa
  • Marcello Esposito
  • Lucia Ruggiero
  • Emanuele Spina
  • Anna De Rosa
  • Francesco Saccà
  • Lucio Santoro
  • Fiore Manganelli
Original Article
  • 186 Downloads

Abstract

Niemann-Pick disease type C (NPC) is a recessive lysosomal lipid storage disorder characterized by central nervous system involvement. Miglustat treatment might improve or stabilize neurological manifestations but there is still limited data on the long-term efficacy. The aim of our study was to report a four-year clinical, neuropsychological and electrophysiological follow-up of two sisters under treatment with miglustat. We report data at basal (T0) and after 4 years (T4) of treatment with miglustat from two sisters (P1 and P2) affected by NPC disease. During the follow-up period, P1 was not adherent to treatment. Both patients underwent neurological evaluation, neuropsychological assessment, nerve conduction study and motor (MEP), visual (VEP), somatosensory, and brainstem auditory evoked potentials. In the patient P2, neurological and electrophysiological evaluations at T4 were stable. Instead, the patient P1, with poor adherence to therapy, developed spasticity, psychiatric disturbances, and alterations of MEP and VEP. Neuropsychological examination showed in both patients a worsening of cognitive impairment. Our findings suggest that long-term therapy with miglustat does not arrest cognitive decline; otherwise, it stabilizes other neurological manifestations.

Keywords

Niemann-pick C Long-term follow-up Cognitive decline Evoked potential Short-latency afferent inhibition 

Notes

Acknowledgments

The authors thank Giuseppina Ciccarelli, Giulia Mele and Marika Ranieri.

Compliance with ethical standards

The authors declare that they have no conflict of interest.

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Copyright information

© Springer-Verlag Italia S.r.l., part of Springer Nature 2018

Authors and Affiliations

  • Stefano Tozza
    • 1
  • Raffaele Dubbioso
    • 1
  • Rosa Iodice
    • 1
  • Antonietta Topa
    • 1
  • Marcello Esposito
    • 1
  • Lucia Ruggiero
    • 1
  • Emanuele Spina
    • 1
  • Anna De Rosa
    • 1
  • Francesco Saccà
    • 1
  • Lucio Santoro
    • 1
  • Fiore Manganelli
    • 1
  1. 1.Department of Neurosciences, Reproductive Sciences and OdontostomatologyUniversity of Naples “Federico II”NaplesItaly

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