{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T08:04:25Z","timestamp":1780387465580,"version":"3.54.1"},"reference-count":0,"publisher":"Ideggyogyaszati Szemle Journal","issue":"5-6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Ideggy\u00f3gy\u00e1szati szemle"],"published-print":{"date-parts":[[2026]]},"abstract":"<jats:p>Introduction \u2013 Dystonia is the third most\ncommon movement disorder, which is highly\ndiverse, both clinically and genetically. With\nthe rise of next-generation sequencing, the\nnumber of genes associated with dystonia\nis increasing. Genetic testing is particularly\nimportant to predict the effectiveness of\nwidely used therapeutic approaches (e.g.,\ndeep brain stimulation\/DBS).\nCase report \u2013 The symptoms of a 69-yearold female patient began at the age of 18\nyears. Her symptoms developed gradually,\ni.e., cervical abnormal postures and movements first, followed by tongue movement\nproblems, writer\u2019s cramp and speech difficulty. At the age of 38, she became severely\ndisabled. During the neurological examination, generalized dystonia as well as occasional choreoathetoid movement elements\non the upper limbs were observed. We\nnoticed dysphagia, dysarthria and occasional\noro-facial and cervical dyskinesia. Brain\nmagnetic resonance imaging demonstrated\nminimal cortical atrophy. The whole exome\nsequencing analysis detected a heterozygous pathogenic nonsense mutation in the\nVPS16 gene. The patient is currently receiving\nclonazepam therapy with moderate symptom relief. Trihexyphenidyl treatment has\nnot been attempted because the significant\nside effects of the previously tried anticholinergic drug. Although DBS was offered, the\npatient refused this treatment.\nConclusion \u2013 Dystonia caused by mutation\nof the VPS16 gene (autosomal dominant) is\na recently recognized new form of hereditary dystonia. The disease is characterized\nby early-onset progressive, generalized\ndystonia, with the predominant involvement\nof oro-facial, bulbar, cervical and upper limb\nregions. Currently there is no clear recommendation for treatment, however, beneficial effects of DBS as well as botulinum toxin\nhave been reported.<\/jats:p>","DOI":"10.18071\/isz.79.0209","type":"journal-article","created":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T07:07:21Z","timestamp":1780384041000},"page":"209-211","source":"Crossref","is-referenced-by-count":0,"title":["Case report: VPS16 \u2013 a new cause of generalized\ndystonia"],"prefix":"10.18071","volume":"79","author":[{"given":"Andr\u00e1s","family":"Salamon","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L\u00e1szl\u00f3","family":"Szpisjak","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D\u00e9nes","family":"Z\u00e1dori","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zolt\u00e1n","family":"Mar\u00f3ti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tibor","family":"Kalm\u00e1r","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P\u00e9ter","family":"Kliv\u00e9nyi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"7411","published-online":{"date-parts":[[2026]]},"container-title":["Ideggy\u00f3gy\u00e1szati szemle"],"original-title":[],"link":[{"URL":"https:\/\/elitmed.hu\/en\/publications\/clinical-neuroscience\/case-report-vps16-a-new-cause-of-generalized-dystonia\/pdf-open","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T07:07:32Z","timestamp":1780384052000},"score":1,"resource":{"primary":{"URL":"https:\/\/elitmed.hu\/en\/publications\/clinical-neuroscience\/case-report-vps16-a-new-cause-of-generalized-dystonia"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026]]},"references-count":0,"journal-issue":{"issue":"5-6","published-online":{"date-parts":[[2026]]},"published-print":{"date-parts":[[2026]]}},"URL":"https:\/\/doi.org\/10.18071\/isz.79.0209","relation":{},"ISSN":["0019-1442","2498-6208"],"issn-type":[{"value":"0019-1442","type":"print"},{"value":"2498-6208","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026]]}}}