Deep Brain Stimulation for VPS16-Related Dystonia: A Multicenter Study

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00064165:_____/25:10499971

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

Deep Brain Stimulation for VPS16-Related Dystonia: A Multicenter Study

Popis výsledku v původním jazyce

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

Název v anglickém jazyce

Deep Brain Stimulation for VPS16-Related Dystonia: A Multicenter Study

Popis výsledku anglicky

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

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30103 - Neurosciences (including psychophysiology)

Projekt

Výsledek vznikl pri realizaci vícero projektů. Více informací v záložce Projekty.

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Rok uplatnění

2025

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Annals of Neurology

ISSN

0364-5134

e-ISSN

1531-8249

Svazek periodika

98

Číslo periodika v rámci svazku

4

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

15

Strana od-do

711-725

Kód UT WoS článku

001511947200001

EID výsledku v databázi Scopus

2-s2.0-105008673185