{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T16:01:32Z","timestamp":1791388892573,"version":"4.3.3"},"reference-count":18,"publisher":"SAGE Publications","issue":"8","license":[{"start":{"date-parts":[[2016,4,6]],"date-time":"2016-04-06T00:00:00Z","timestamp":1459900800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2016,7]]},"abstract":"<jats:p>ADCY5 mutations have been reported as a cause of early onset hyperkinetic movements associated with delayed motor milestones, hypotonia, and exacerbation during sleep. The movement disorder may be continuous or episodic, and can vary considerably in severity within families and in individuals. The authors report a case series of 3 patients with ADCY5 mutations treated with deep brain stimulation after unsuccessful medication trials. All had extensive imaging, metabolic, and genetic testing prior to confirmation of their ADCY5 mutation. Two of the patients had the c.1252C&gt;T; p.R418W mutation, while the youngest and most severely affected had a de novo c.2080_2088del; p.K694_M696 mutation. All had variable and incomplete, but positive responses to deep brain stimulation. The authors conclude that deep brain stimulation may provide benefit in ADCY5-related movement disorders. Long-term efficacy remains to be confirmed by longitudinal observation. ADCY5 should be considered in the differential diagnosis of early onset hyperkinetic movement disorders, and may respond to deep brain stimulation.<\/jats:p>","DOI":"10.1177\/0883073816635749","type":"journal-article","created":{"date-parts":[[2016,4,7]],"date-time":"2016-04-07T00:58:38Z","timestamp":1459990718000},"page":"1027-1035","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":52,"title":["Treatment of\n                    <i>ADCY5<\/i>\n                    -Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation"],"prefix":"10.1177","volume":"31","author":[{"given":"Marisela E.","family":"Dy","sequence":"first","affiliation":[{"name":"Department of Neurology, Boston Children\u2019s Hospital, Boston, MA, USA"},{"name":"Department of Neurology, Massachusetts General Hospital, Boston, MA, USA"},{"name":"Harvard Medical School, Boston, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florence C. F.","family":"Chang","sequence":"additional","affiliation":[{"name":"Movement Disorders Unit, Department of Neurology, Westmead Hospital, Westmead, Australia"},{"name":"Sydney Medical School, University of Sydney, Sydney, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sol De","family":"Jesus","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Florida Center for Movement Disorders and Neurorestoration, Gainesville, FL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irina","family":"Anselm","sequence":"additional","affiliation":[{"name":"Department of Neurology, Boston Children\u2019s Hospital, Boston, MA, USA"},{"name":"Harvard Medical School, Boston, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neil","family":"Mahant","sequence":"additional","affiliation":[{"name":"Movement Disorders Unit, Department of Neurology, Westmead Hospital, Westmead, Australia"},{"name":"Sydney Medical School, University of Sydney, Sydney, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pamela","family":"Zeilman","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Florida Center for Movement Disorders and Neurorestoration, Gainesville, FL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lance H.","family":"Rodan","sequence":"additional","affiliation":[{"name":"Harvard Medical School, Boston, MA, USA"},{"name":"Division of Genetics and Genomics, Boston Children\u2019s Hospital, Boston, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kelly D.","family":"Foote","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, University of Florida Center for Movement Disorders and Neurorestoration, Gainesville, FL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen-Hann","family":"Tan","sequence":"additional","affiliation":[{"name":"Harvard Medical School, Boston, MA, USA"},{"name":"Division of Genetics and Genomics, Boston Children\u2019s Hospital, Boston, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emad","family":"Eskandar","sequence":"additional","affiliation":[{"name":"Harvard Medical School, Boston, MA, USA"},{"name":"Department of Neurosurgery, Massachusetts General Hospital, Boston, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nutan","family":"Sharma","sequence":"additional","affiliation":[{"name":"Department of Neurology, Boston Children\u2019s Hospital, Boston, MA, USA"},{"name":"Department of Neurology, Massachusetts General Hospital, Boston, MA, USA"},{"name":"Harvard Medical School, Boston, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael S.","family":"Okun","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Florida Center for Movement Disorders and Neurorestoration, Gainesville, FL, USA"},{"name":"Department of Neurosurgery, University of Florida Center for Movement Disorders and Neurorestoration, Gainesville, FL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victor S. C.","family":"Fung","sequence":"additional","affiliation":[{"name":"Movement Disorders Unit, Department of Neurology, Westmead Hospital, Westmead, Australia"},{"name":"Sydney Medical School, University of Sydney, Sydney, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeff L.","family":"Waugh","sequence":"additional","affiliation":[{"name":"Department of Neurology, Boston Children\u2019s Hospital, Boston, MA, USA"},{"name":"Department of Neurology, Massachusetts General Hospital, Boston, MA, USA"},{"name":"Harvard Medical School, Boston, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2016,4,6]]},"reference":[{"key":"bibr1-0883073816635749","unstructured":"Shaw C, Hisama F, Friedman J, Bird TD.\n                      ADCY5\n                      -related dyskinesia December 18, 2014. Updated December 17, 2015. In: Pagon RA, Adam MP, Ardinger HH,  eds. GeneReviews\u00ae. Seattle: University of Washington; 1993\u20132015. Available at: http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK263441\/."},{"key":"bibr2-0883073816635749","doi-asserted-by":"publisher","DOI":"10.1136\/pn.2007.134585"},{"key":"bibr3-0883073816635749","doi-asserted-by":"publisher","DOI":"10.5334\/tohm.269"},{"key":"bibr4-0883073816635749","doi-asserted-by":"publisher","DOI":"10.1002\/mds.26115"},{"key":"bibr5-0883073816635749","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24119"},{"key":"bibr6-0883073816635749","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000001720"},{"key":"bibr7-0883073816635749","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2012.54"},{"key":"bibr8-0883073816635749","doi-asserted-by":"publisher","DOI":"10.1002\/ana.98"},{"key":"bibr9-0883073816635749","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.30879"},{"key":"bibr10-0883073816635749","doi-asserted-by":"publisher","DOI":"10.1046\/j.1471-4159.1997.68020498.x"},{"key":"bibr11-0883073816635749","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.C300075200"},{"key":"bibr12-0883073816635749","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.0864-14.2014"},{"key":"bibr13-0883073816635749","author":"Chang FCF","journal-title":"Movement Disorders"},{"key":"bibr14-0883073816635749","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.12117"},{"key":"bibr15-0883073816635749","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000001312"},{"key":"bibr16-0883073816635749","doi-asserted-by":"publisher","DOI":"10.1016\/j.pneurobio.2015.08.001"},{"key":"bibr17-0883073816635749","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1999.0976"},{"key":"bibr18-0883073816635749","unstructured":"Furukawa Y. GTP cyclohydrolase 1-deficient dopa-responsive dystonia. February 21, 2002. March 5, 2015. In: Pagon RA, Adam MP, Ardinger HH,  eds. GeneReviews\u00ae. Seattle: University of Washington; 1993\u20132015. 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