{
  "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. 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.",
  "abstract_shown": true,
  "affiliations": [],
  "article_type": null,
  "arxiv": null,
  "author_total": 47,
  "authors": [
    {
      "name": "Tatiana Svorenova"
    },
    {
      "name": "Luigi Romito"
    },
    {
      "name": "Ahmet Kaymak"
    },
    {
      "name": "Eoin Mulroy"
    },
    {
      "name": "Laura Cif"
    },
    {
      "name": "Elena Moro"
    },
    {
      "name": "Kirsten Zeuner"
    },
    {
      "name": "Simone Zittel"
    },
    {
      "name": "Jan Niklas Petry-Schmelzer"
    },
    {
      "name": "Doreen Gruber"
    },
    {
      "name": "Liesanne Centen"
    },
    {
      "name": "Alberto Albanese"
    },
    {
      "name": "Miriama Ostrozovicova"
    },
    {
      "name": "Vladimir Han"
    },
    {
      "name": "Veronika Magocova"
    },
    {
      "name": "Kamil Knorovsky"
    },
    {
      "name": "Aurelia Kollova"
    },
    {
      "name": "Barbara Garavaglia"
    },
    {
      "name": "Nico Golfrè-Andreasi"
    },
    {
      "name": "Chiara Reale"
    },
    {
      "name": "Alberto Mazzoni"
    },
    {
      "name": "Giovanna Zorzi"
    },
    {
      "name": "Roberto Eleopra"
    },
    {
      "name": "Vincenzo Levi"
    },
    {
      "name": "Thomas Foltynie"
    },
    {
      "name": "Patricia Limousin"
    },
    {
      "name": "Harith Akram"
    },
    {
      "name": "Ludvic Zrinzo"
    },
    {
      "name": "Francesca Magrinelli"
    },
    {
      "name": "David Murphy"
    },
    {
      "name": "Henry Houlden"
    },
    {
      "name": "Manju Kurian"
    },
    {
      "name": "Claudio Baiata"
    },
    {
      "name": "Steffen Paschen"
    },
    {
      "name": "Katja Lohmann"
    },
    {
      "name": "Jens Volkmann"
    },
    {
      "name": "Wolfgang Hamel"
    },
    {
      "name": "Michael Barbe"
    },
    {
      "name": "Martje van Egmond"
    },
    {
      "name": "Maj Tijssen"
    },
    {
      "name": "Lubos Ambro"
    },
    {
      "name": "Veronika Jurkova"
    },
    {
      "name": "Robert Jech"
    },
    {
      "name": "Petra Havrankova"
    },
    {
      "name": "Juliane Winkelmann"
    },
    {
      "name": "Michael Zech"
    },
    {
      "name": "Matej Skorvanek"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/asat9n8h81br1.bib",
  "cited_by": 9,
  "doi": "10.1002/ana.27290",
  "fulltext_url": null,
  "id": "asat9n8h81br1",
  "issns": [
    "0364-5134",
    "1531-8249"
  ],
  "landing_url": "https://hal.science/hal-05735316v1",
  "language": "en",
  "licence": "CC-BY-4.0",
  "licence_label": "CC BY 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "hal",
      "0.sdv"
    ],
    [
      "hal",
      "1.sdv.neu"
    ],
    [
      "openalex",
      "2728|Neurological disorders and treatments"
    ]
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  "openalex": "W4411496014",
  "pdf_url": "https://hal.science/hal-05735316/document",
  "pmcid": null,
  "pmid": "40539388",
  "published": "2026-09-02",
  "publisher": "Wiley",
  "ris": "https://research.draconitic.com/paper/asat9n8h81br1.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:17:24Z",
      "native_id": "hal-05735316",
      "source": "hal",
      "url": "https://hal.science/hal-05735316v1"
    }
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  "subjects": [
    {
      "field": "biology",
      "origin": "hal:1.sdv.neu",
      "subfield": "neuroscience"
    }
  ],
  "title": "Deep Brain Stimulation for VPS16 ‐Related Dystonia: A Multicenter Study",
  "title_text": "Deep Brain Stimulation for VPS16 ‐Related Dystonia: A Multicenter Study",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:17:24Z",
  "url": "https://research.draconitic.com/paper/asat9n8h81br1",
  "venue": "Annals of Neurology",
  "versions": []
}