Clinical course of patients with pantothenate kinase-associated neurodegeneration (PKAN) before and after DBS surgery
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023884%3A_____%2F19%3A00008547" target="_blank" >RIV/00023884:_____/19:00008547 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/19:10400683 RIV/00064165:_____/19:10400683
Result on the web
<a href="https://link.springer.com/article/10.1007%2Fs00415-019-09499-3" target="_blank" >https://link.springer.com/article/10.1007%2Fs00415-019-09499-3</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1007/s00415-019-09499-3" target="_blank" >10.1007/s00415-019-09499-3</a>
Alternative languages
Result language
angličtina
Original language name
Clinical course of patients with pantothenate kinase-associated neurodegeneration (PKAN) before and after DBS surgery
Original language description
ntroduction 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.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30103 - Neurosciences (including psychophysiology)
Result continuities
Project
—
Continuities
N - Vyzkumna aktivita podporovana z neverejnych zdroju
Others
Publication year
2019
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Journal of Neurology
ISSN
0340-5354
e-ISSN
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Volume of the periodical
266
Issue of the periodical within the volume
12
Country of publishing house
DE - GERMANY
Number of pages
8
Pages from-to
2962-2969
UT code for WoS article
000496025500007
EID of the result in the Scopus database
2-s2.0-85072025859