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- Title
Clinical course of patients with pantothenate kinase-associated neurodegeneration (PKAN) before and after DBS surgery.
- Authors
Svetel, Marina; Tomić, Aleksandra; Dragašević, Nataša; Petrović, Igor; Kresojević, Nikola; Jech, Robert; Urgošik, Dušan; Banjac, Isidora; Vitković, Jelena; Novaković, Ivana; Kostić, Vladimir S.
- 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.
- Subjects
SERBIA; FUNCTIONAL independence measure; NEURODEGENERATION; DEEP brain stimulation; DISEASE duration
- Publication
Journal of Neurology, 2019, Vol 266, Issue 12, p2962
- ISSN
0340-5354
- Publication type
Article
- DOI
10.1007/s00415-019-09499-3