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

Svorenova, Tatiana ; Romito, Luigi M. ; Kaymak, Ahmet; Mulroy, Eoin ; Cif, Laura; Moro, Elena ; Zeuner, Kirsten E.; Zittel, Simone; Petry‐Schmelzer, Jan Niklas ; Gruber, Doreen; Centen, Liesanne; Albanese, Alberto; Ostrozovicova, Miriama; Han, Vladimir; Magocova, Veronika; Knorovsky, Kamil; Kollova, Aurelia; Garavaglia, Barbara; Golfrè‐Andreasi, Nico; Reale, Chiara; Mazzoni, Alberto; Zorzi, Giovanna; Eleopra, Roberto; Levi, Vincenzo; Foltynie, Thomas ; Limousin, Patricia; Akram, Harith; Zrinzo, Ludvic; Magrinelli, Francesca ; Murphy, David; Houlden, Henry; Kurian, Manju A.; Baiata, Claudio; Paschen, Steffen; Lohmann, Katja ; Volkmann, Jens; Hamel, Wolfgang; Barbe, Michael T.; Egmond, Martje E. van; Tijssen, MAJ; Ambro, Lubos; Jurkova, Veronika; Jech, Robert; Havrankova, Petra; Winkelmann, Juliane; Zech, Michael und Skorvanek, Matej (2025): Deep Brain Stimulation for VPS16‐Related Dystonia: A Multicenter Study. In: Annals of Neurology, Bd. 98, Nr. 4: S. 711-725

Abstract

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.

• Dokumententyp: Zeitschriftenartikel
• Fakultät: Medizin > Munich Cluster for Systems Neurology (SyNergy)
• Themengebiete: 600 Technik, Medizin, angewandte Wissenschaften > 610 Medizin und Gesundheit
• ISSN: 0364-5134
• Sprache: Englisch
• DFG: Gefördert durch die Deutsche Forschungsgemeinschaft (DFG) - 390857198
• DFG: Gefördert durch die Deutsche Forschungsgemeinschaft (DFG) - 458949627