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01-12-2019 | Dystonia | Original Communication

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

Authors: Marina Svetel, Aleksandra Tomić, Nataša Dragašević, Igor Petrović, Nikola Kresojević, Robert Jech, Dušan Urgošik, Isidora Banjac, Jelena Vitković, Ivana Novaković, Vladimir S. Kostić

Published in: Journal of Neurology | Issue 12/2019

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.

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Title: Clinical course of patients with pantothenate kinase-associated neurodegeneration (PKAN) before and after DBS surgery
Authors: Marina Svetel
Aleksandra Tomić
Nataša Dragašević
Igor Petrović
Nikola Kresojević
Robert Jech
Dušan Urgošik
Isidora Banjac
Jelena Vitković
Ivana Novaković
Vladimir S. Kostić
Publication date: 01-12-2019
Publisher: Springer Berlin Heidelberg
Keywords: Dystonia
Deep Brain Stimulation
Published in: Journal of Neurology / Issue 12/2019
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-019-09499-3

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

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

Abstract

Introduction

Methods

Results

Conclusion

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Introduction

Methods

Results

Conclusion

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