Deep Brain Stimulation for VPS16-Related Dystonia: A Multicenter Study.
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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, van Egmond Martje E, Tijssen Maj, Ambro Lubos, Jurkova Veronika, Jech Robert, Havrankova Petra, Winkelmann Juliane, Zech Michael, Skorvanek Matej
Аннотация
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;98:711-725.