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Journal of Neurology

, Volume 266, Issue 12, pp 2962–2969 | Cite as

Clinical course of patients with pantothenate kinase-associated neurodegeneration (PKAN) before and after DBS surgery

  • Marina Svetel
  • Aleksandra Tomić
  • Nataša Dragašević
  • Igor Petrović
  • Nikola Kresojević
  • Robert Jech
  • Dušan Urgošik
  • Isidora Banjac
  • Jelena Vitković
  • Ivana Novaković
  • Vladimir S. KostićEmail author
Original Communication
  • 97 Downloads

Abstract

Introduction

Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive disorder with a progressive clinical course. In addition to symptomatic therapy, DBS has been increasingly recognized as a potential therapeutic strategy, especially in severe cases. Therefore, we wanted to report our experience regarding benefits of DBS in five PKAN cases in 3-year follow-up study.

Methods

Five genetically confirmed PKAN patients from Serbia underwent GPi-DBS. To assess clinical outcome, we reviewed medical charts and applied: Schwab and England Activities of Daily Living Scale (S&E), EQ-5D questionnaire for quality of life, Patient Global Impression of Improvement (GPI-I), Functional Independence Measure (FIM), Burke–Fahn–Marsden Dystonia Rating Scale (BFMDRS), Barry Albright Dystonia Scale (BAD). Patients were evaluated in five visits: at the disease onset, 5 years after the onset, before surgery, 6 months and 14–36 months after the surgery. Improvement of 20% was accepted as significant.

Results

Overall, dystonia significantly improved after GPi-DBS at 6 and 14–36 months postoperatively, when assessed by the BFMDRS and BAD. However, two patients failed to improve considerably. Four patients reported improvement on GPI-I, while one remained unchanged. Three patients reported significant improvement, when assessed with S&E and FIM. EQ-5D showed the most prominent improvement in the domains of mobility and pain/discomfort.

Conclusion

Three out of our five patients experienced beneficial effects of the GPi-DBS, in up to 36 months follow-up. Two patients who had not reached significant improvement had longer disease duration; therefore, it might be reasonable to recommend GPi-DBS as soon as dystonia became disabling.

Keywords

Deep brain stimulation Dystonia Globus pallidus internus Pantothenate kinase-associated neurodegeneration 

Notes

Funding

This work was supported by Ministry of Education, Science and Technological Development of the Republic of Serbia (Grant Number 175090).

Compliance with ethical standards

Conflicts of interest

Marina Svetel has received speaker’s honoraria from Actavis. Robert Jech is Consultant to Ipsen, Cardion; Advisory Board of Ipsen. Vladimir Kostić has received research grants from the Ministry of Education, Science, and Technological Development, Republic of Serbia and the Serbian Academy of Science and Arts; and speaker honoraria from Actavis and Salveo. Aleksandra Tomić, Nataša Dragašević, Igor Petrović, Nikola Kresojević, Isidora Banjac, Jelena Vitković, Ivana Novaković and Dušan Urgošik declare no conflict of interest.

Ethical standards

The study was approved by the Institutional Review Board of the Clinic of Neurology and have therefore been performed in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki and its later amendments.

Informed consent

All patients gave informed consent.

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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  • Marina Svetel
    • 1
    • 2
  • Aleksandra Tomić
    • 1
    • 2
  • Nataša Dragašević
    • 1
    • 2
  • Igor Petrović
    • 1
    • 2
  • Nikola Kresojević
    • 1
  • Robert Jech
    • 3
  • Dušan Urgošik
    • 4
  • Isidora Banjac
    • 2
  • Jelena Vitković
    • 2
  • Ivana Novaković
    • 5
  • Vladimir S. Kostić
    • 1
    • 2
    Email author
  1. 1.Clinic of NeurologyClinical Center of SerbiaBelgradeSerbia
  2. 2.School of MedicineUniversity of BelgradeBelgradeSerbia
  3. 3.Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine and General University Hospital in PragueCharles UniversityPragueCzech Republic
  4. 4.Department of Stereotactic and Radiation NeurosurgeryNa Homolce HospitalPragueCzech Republic
  5. 5.Institute for Human Genetics, School of MedicineUniversity of BelgradeBelgradeSerbia

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