Deep Brain Stimulation for VPS16-Related Dystonia: A Multicenter Study
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F25%3A10499971" target="_blank" >RIV/00216208:11110/25:10499971 - isvavai.cz</a>
Alternative codes found
RIV/00064165:_____/25:10499971
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=J5M5646bKm" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=J5M5646bKm</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1002/ana.27290" target="_blank" >10.1002/ana.27290</a>
Alternative languages
Result language
angličtina
Original language name
Deep Brain Stimulation for VPS16-Related Dystonia: A Multicenter Study
Original language description
Objective: The objective was to evaluate the effects of deep brain stimulation (DBS) in an international cohort of patients with VPS16-related dystonia. Methods: This observational study collected preoperative and postoperative demographic, clinical, stimulation, genetic, neuroimaging, and neurophysiological data of medically refractory DYT-VPS16 patients with implanted DBS in 10 international centers. Motor symptoms and disability outcomes were assessed using the Burke-Fahn-Marsden Dystonia Rating Scale Motor (BFMDRS-M) and Disability (BFMDRS-D) scales. A cut-off threshold for considering response to DBS was set at 25% of BFMDRS-M improvement at the last follow-up (FU) compared to baseline. Results: The cohort consisted of 26 participants (17 men, 65.4%). Age at dystonia onset and surgery was 17.8 +- 10.9 and 35.3 +- 14.8 years, respectively. At the last FU, 102.5 +- 57.3 months (range, 2-216), the mean BFMDRS-M improvement was 41.6 +- 37.3% (26/26 patients) and 34.8 +- 42.6% for the BFMDRS-D (23/26 patients). Most patients (19/26, 73%) were considered responders. Higher motor improvement was associated with stimulation of the ventroposterior portion of the internal globus pallidus. A significant inverse relationship was observed between improvement in BFMDRS-M at last FU, and the presence of spasticity (p = 0.027) and fixed skeletal deformities (p = 0.001) before surgery. Non-responders had a younger age at disease onset and at implantation, shorter disease duration at DBS surgery, and higher baseline BFMDRS scores. Interpretation: DBS was an effective treatment for three-quarters of patients with pathogenic VPS16 variants in our cohort. Mean motor improvement was most pronounced at the 1-year FU, but persisted at the last FU despite disease progression. ANN NEUROL 2025
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
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2025
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Annals of Neurology
ISSN
0364-5134
e-ISSN
1531-8249
Volume of the periodical
98
Issue of the periodical within the volume
4
Country of publishing house
US - UNITED STATES
Number of pages
15
Pages from-to
711-725
UT code for WoS article
001511947200001
EID of the result in the Scopus database
2-s2.0-105008673185