Clinical course of patients with pantothenate kinase-associated neurodegeneration (PKAN) before and after DBS surgery
| Autor: | Nikola Kresojević, Ivana Novakovic, Dušan Urgošík, Isidora Banjac, Robert Jech, Aleksandra Tomić, Jelena Vitković, Vladimir S. Kostic, Igor Petrović, Nataša Dragašević, Marina Svetel |
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| Rok vydání: | 2019 |
| Předmět: |
Adult
Male Pediatrics medicine.medical_specialty Deep brain stimulation Activities of daily living Neurology medicine.medical_treatment Deep Brain Stimulation Globus Pallidus Severity of Illness Index Pantothenate kinase-associated neurodegeneration 03 medical and health sciences Young Adult 0302 clinical medicine medicine Humans 030212 general & internal medicine Therapeutic strategy Neuroradiology Pantothenate Kinase-Associated Neurodegeneration Dystonia business.industry Clinical course medicine.disease nervous system diseases 3. Good health Treatment Outcome nervous system Disease Progression Female Neurology (clinical) business 030217 neurology & neurosurgery Follow-Up Studies |
| Zdroj: | Journal of neurology. 266(12) |
| ISSN: | 1432-1459 |
| Popis: | 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.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 (SE), 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.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 SE and FIM. EQ-5D showed the most prominent improvement in the domains of mobility and pain/discomfort.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. |
| Databáze: | OpenAIRE |
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