PuSH - Publication Server of Helmholtz Zentrum München: Deep brain stimulation for <em>VPS16</em>-related dystonia: A multicenter study.

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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.* ; Ostrozovičová, 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.A.* ; Lohmann, K.* ; Volkmann, J.* ; Hamel, W.* ; Barbe, M.T.* ; van Egmond, M.E.* ; Tijssen, M.A.* ; Ambro, L.* ; Jurkova, V.* ; Jech, R.* ; Havránková, P.* ; Winkelmann, J. ; Zech, M. ; Škorvánek, M.*

Deep brain stimulation for VPS16-related dystonia: A multicenter study.

Ann. Neurol., DOI: 10.1002/ana.27290 (2025)

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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.

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