{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,18]],"date-time":"2026-10-18T04:57:44Z","timestamp":1792299464218,"version":"4.4.0"},"reference-count":10,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,12,12]],"date-time":"2023-12-12T00:00:00Z","timestamp":1702339200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100022720","name":"Fondazione Regionale per la Ricerca Biomedica","doi-asserted-by":"publisher","award":["825575"],"award-info":[{"award-number":["825575"]}],"id":[{"id":"10.13039\/501100022720","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["Ricerca_Corrente"],"award-info":[{"award-number":["Ricerca_Corrente"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p><jats:italic>VPS16<\/jats:italic> pathogenic variants have been recently associated with inherited dystonia. Most patients affected by dominant VPS16\u2010related disease display early\u2010onset isolated dystonia with prominent oromandibular, bulbar, cervical, and upper limb involvement, followed by slowly progressive generalization.<\/jats:p><\/jats:sec><jats:sec><jats:title>Cases<\/jats:title><jats:p>We describe six newly reported dystonic patients carrying <jats:italic>VPS16<\/jats:italic> mutations displaying unusual phenotypic features in addition to dystonia, such as myoclonus, choreoathetosis, pharyngospasm and freezing of gait. Response to bilateral Globus Pallidus Internus Deep Brain Stimulation (GPi\u2010DBS) is reported in three of them, associated with significant improvement of dystonia but only minor effect on other hyperkinetic movements. Moreover, five novel pathogenic\/likely pathogenic variants are described.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This case collection expands the genetic and clinical spectrum of <jats:italic>VPS16<\/jats:italic>\u2010related disease, prompting movement disorder specialists to suspect mutations of this gene not only in patients with isolated dystonia.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mdc3.13927","type":"journal-article","created":{"date-parts":[[2023,11,15]],"date-time":"2023-11-15T16:25:24Z","timestamp":1700065524000},"page":"87-93","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Dominant <scp><i>VPS16<\/i><\/scp> Pathogenic Variants: Not Only Isolated Dystonia"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4720-9234","authenticated-orcid":false,"given":"Edoardo","family":"Monfrini","sequence":"first","affiliation":[{"name":"Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation University of Milan  Milan Italy"},{"name":"Foundation IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico Neurology Unit  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6286-1509","authenticated-orcid":false,"given":"Laura","family":"Avanzino","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine, Section of Human Physiology and Centro Polifunzionale di Scienze Motorie University of Genoa  Genoa Italy"},{"name":"IRCCS Ospedale Policlinico San Martino  Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Palermo","sequence":"additional","affiliation":[{"name":"Center for Neurodegenerative Diseases, Parkinson's Disease and Movement Disorders, Unit of Neurology, Department of Clinical and Experimental Medicine University of Pisa  Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia","family":"Bonato","sequence":"additional","affiliation":[{"name":"Parkinson and Movement Disorders Unit, Centre for Rare Neurological Diseases (ERN\u2010RND), Department of Neuroscience University of Padua  Padua Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gloria","family":"Brescia","sequence":"additional","affiliation":[{"name":"Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation University of Milan  Milan Italy"},{"name":"Medical Genetics Laboratory Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Ceravolo","sequence":"additional","affiliation":[{"name":"Center for Neurodegenerative Diseases, Parkinson's Disease and Movement Disorders, Unit of Neurology, Department of Clinical and Experimental Medicine University of Pisa  Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanna","family":"Cantarella","sequence":"additional","affiliation":[{"name":"Department of Clinical Sciences and Community Health University of Milan  Milan Italy"},{"name":"Department of Otolaryngology Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Mandich","sequence":"additional","affiliation":[{"name":"IRCCS Ospedale Policlinico San Martino  Genoa Italy"},{"name":"Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal, and Child Health University of Genoa  Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holger","family":"Prokisch","sequence":"additional","affiliation":[{"name":"Institute of Neurogenomics, Helmholtz Munich  Neuherberg Germany"},{"name":"Institute of Human Genetics, Technical University of Munich, School of Medicine  Munich 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Parkinson and Movement Disorders Unit Fondazione IRCCS Istituto Neurologico Carlo Besta  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7800-7419","authenticated-orcid":false,"given":"Roberto","family":"Erro","sequence":"additional","affiliation":[{"name":"Department of Medicine, Surgery and Dentistry \u201cScuola Medica Salernitana,\u201d Neuroscience Section University of Salerno  Salerno Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miryam","family":"Carecchio","sequence":"additional","affiliation":[{"name":"Center for Neurodegenerative Diseases, Parkinson's Disease and Movement Disorders, Unit of Neurology, Department of Clinical and Experimental Medicine University of Pisa  Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Garavaglia","sequence":"additional","affiliation":[{"name":"Medical Genetics and Neurogenetics Unit Fondazione IRCCS Istituto 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