| Title: |
Deep Brain Stimulation for VPS16-Related Dystonia: A Multicenter Study |
| Authors: |
Svorenova, T.; Romito, L.M.; Kaymak, A.; Mulroy, E.; Cif, L.; Moro, E.; Zeuner, K.E.; Zittel, S.; Petry-Schmelzer, J.N.; Gruber, D.; Centen, L.; Albanese, A.; Ostrozovicova, M.; Han, V.; Magocova, V.; Knorovsky, K.; Kollova, A.; Garavaglia, B.; Golfrè-Andreasi, N.; Reale, C.; Mazzoni, A.; Zorzi, G.; Eleopra, R.; Levi, V.; Foltynie, T.; Limousin, P.; Akram, H.; Zrinzo, L.; Magrinelli, F.; Murphy, D.; Houlden, H.; Kurian, M.A.; Baiata, C.; Paschen, S.; Lohmann, K.; Volkmann, J.; Hamel, W.; Barbe, M.T.; van Egmond, M.E.; Tijssen, M.; Ambro, L.; Jurkova, V.; Jech, R.; Havrankova, P.; Winkelmann, J.; Zech, M.; Skorvanek, M. |
| Publication Year: |
2025 |
| Collection: |
Université de Lausanne (UNIL): Serval - Serveur académique lausannois |
| Description: |
The objective was to evaluate the effects of deep brain stimulation (DBS) in an international cohort of patients with VPS16-related dystonia. 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. 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. 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;98:711-725. © 2025 The Author(s). Annals of Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association. |
| Document Type: |
article in journal/newspaper |
| File Description: |
application/pdf |
| Language: |
English |
| ISSN: |
0364-5134 |
| Relation: |
Annals of neurology; https://iris.unil.ch/handle/iris/266922; serval:BIB_90CC159259B1; 001511947200001 |
| DOI: |
10.1002/ana.27290 |
| Availability: |
https://iris.unil.ch/handle/iris/266922; https://doi.org/10.1002/ana.27290 |
| Accession Number: |
edsbas.FC7006A3 |
| Database: |
BASE |