{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,16]],"date-time":"2026-07-16T12:23:23Z","timestamp":1784204603558,"version":"3.55.0"},"reference-count":33,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2016,10,12]],"date-time":"2016-10-12T00:00:00Z","timestamp":1476230400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004564","name":"Ministarstvo Prosvete, Nauke i Tehnolo\u0161kog Razvoja","doi-asserted-by":"publisher","award":["175090"],"award-info":[{"award-number":["175090"]}],"id":[{"id":"10.13039\/501100004564","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2017,1]]},"abstract":"<jats:sec><jats:title>Background and purpose<\/jats:title><jats:p>Mutations in the <jats:italic><jats:styled-content style=\"fixed-case\">GCH<\/jats:styled-content>1<\/jats:italic> gene, encoding <jats:styled-content style=\"fixed-case\">GTP<\/jats:styled-content> cyclohydrolase 1, the enzyme critically important for dopamine production in nigrostriatal neurons, are the most common cause of dopa\u2010responsive dystonia (<jats:styled-content style=\"fixed-case\">DRD<\/jats:styled-content>), characterized predominantly by limb dystonia, although parkinsonian features may also be present. It has been suggested that <jats:styled-content style=\"fixed-case\">DRD<\/jats:styled-content> is a neurochemical rather than neurodegenerative disorder.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Transcranial brain sonography, which might be a risk marker for nigral injury, was obtained from 141 subjects divided into four groups: (i) 11 patients with genetically confirmed <jats:styled-content style=\"fixed-case\">DRD<\/jats:styled-content>; (ii) 55 consecutive patients with Parkinson\u02bcs disease (<jats:styled-content style=\"fixed-case\">PD<\/jats:styled-content>); (iii) 30 patients diagnosed as isolated adult\u2010onset focal dystonia; and (iv) 45 healthy controls (<jats:styled-content style=\"fixed-case\">HCs<\/jats:styled-content>).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Substantia nigra hyperechogenicity was present in 63.6% of patients with <jats:styled-content style=\"fixed-case\">DRD<\/jats:styled-content>, which was significantly different in comparison to patients with dystonia (20%) and <jats:styled-content style=\"fixed-case\">HCs<\/jats:styled-content> (6.7%), but not in comparison to the <jats:styled-content style=\"fixed-case\">PD<\/jats:styled-content> group (87.3%). Also, values of the maximal areas of substantia nigra hyperechogenicity in patients with <jats:styled-content style=\"fixed-case\">DRD<\/jats:styled-content> were higher in comparison to <jats:styled-content style=\"fixed-case\">HCs<\/jats:styled-content>, but significantly lower than among the <jats:styled-content style=\"fixed-case\">PD<\/jats:styled-content> group.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>We suggested that the observed transcranial brain sonography features in patients with <jats:styled-content style=\"fixed-case\">DRD<\/jats:styled-content> might primarily be risk markers for particular clinical features (parkinsonism, dystonia) occurring in the specific genetic context (i.e. <jats:italic><jats:styled-content style=\"fixed-case\">GCH<\/jats:styled-content>1<\/jats:italic> mutations), or might reflect compensated neurodegenerative processes triggered by the long\u2010lasting dopamine deficiency due to the profound delay in levodopa treatment in our patients with <jats:styled-content style=\"fixed-case\">DRD<\/jats:styled-content>.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.13172","type":"journal-article","created":{"date-parts":[[2016,10,13]],"date-time":"2016-10-13T19:13:55Z","timestamp":1476386035000},"page":"161-166","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Transcranial sonography in dopa\u2010responsive dystonia"],"prefix":"10.1111","volume":"24","author":[{"given":"M.","family":"Svetel","sequence":"first","affiliation":[{"name":"Clinic of Neurology Clinical Center of Serbia Faculty of Medicine University of Belgrade Belgrade Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Tomi\u0107","sequence":"additional","affiliation":[{"name":"Clinic of Neurology Clinical Center of Serbia Faculty of Medicine University of Belgrade Belgrade Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0250-597X","authenticated-orcid":false,"given":"M.","family":"Mijajlovi\u0107","sequence":"additional","affiliation":[{"name":"Clinic of Neurology Clinical Center of Serbia Faculty of Medicine University of Belgrade Belgrade Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Dobri\u010di\u0107","sequence":"additional","affiliation":[{"name":"Clinic of Neurology Clinical Center of Serbia Faculty of Medicine University of Belgrade Belgrade Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Novakovi\u0107","sequence":"additional","affiliation":[{"name":"Institute for Human Genetics Faculty of Medicine University of Belgrade Belgrade Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Pekmezovi\u0107","sequence":"additional","affiliation":[{"name":"Institute of Epidemiology Faculty of Medicine University of Belgrade Belgrade Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Brajkovi\u0107","sequence":"additional","affiliation":[{"name":"Institute for Nuclear Medicine Clinical Center of Serbia Belgrade Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V. 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