{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T04:47:31Z","timestamp":1773031651906,"version":"3.50.1"},"reference-count":8,"publisher":"Springer Science and Business Media LLC","issue":"9","license":[{"start":{"date-parts":[[2023,5,10]],"date-time":"2023-05-10T00:00:00Z","timestamp":1683676800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2023,5,10]],"date-time":"2023-05-10T00:00:00Z","timestamp":1683676800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neurol Sci"],"published-print":{"date-parts":[[2023,9]]},"DOI":"10.1007\/s10072-023-06832-7","type":"journal-article","created":{"date-parts":[[2023,5,11]],"date-time":"2023-05-11T05:27:06Z","timestamp":1683782826000},"page":"3323-3326","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A case of childhood-onset dystonia-parkinsonism due to homozygous parkin mutations and effect of globus pallidus deep brain stimulation"],"prefix":"10.1007","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3555-3882","authenticated-orcid":false,"given":"Federica","family":"Garr\u00ec","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dario","family":"Ciprietti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lisa","family":"Lerjefors","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Landi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manuela","family":"Pilleri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberta","family":"Biundo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leonardo","family":"Salviati","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miryam","family":"Carecchio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angelo","family":"Antonini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2023,5,10]]},"reference":[{"issue":"5","key":"6832_CR1","doi-asserted-by":"publisher","first-page":"730","DOI":"10.1002\/mds.27352","volume":"33","author":"M Kasten","year":"2018","unstructured":"Kasten M, Hartmann C, Hampf J, Schaake S, Westenberger A, Vollstedt EJ, Balck A, Domingo A, Vulinovic F, Dulovic M, Zorn I, Madoev H, Zehnle H, Lembeck CM, Schawe L, Reginold J, Huang J, K\u00f6nig IR, Bertram L, Marras C, Lohmann K, Lill CM, Klein C (2018) Genotype-phenotype relations for the Parkinson\u2019s disease genes parkin, PINK1, DJ1: mdsgene systematic review. Mov Disord 33(5):730\u2013741. https:\/\/doi.org\/10.1002\/mds.27352","journal-title":"Mov Disord"},{"issue":"2","key":"6832_CR2","doi-asserted-by":"publisher","first-page":"303","DOI":"10.1002\/mds.22342","volume":"24","author":"M Amboni","year":"2009","unstructured":"Amboni M, Pellecchia MT, Cozzolino A, Picillo M, Vitale C, Barone P, Varrone A, Garavaglia B, Gambelli S, Federico A (2009) Cerebellar and pyramidal dysfunctions, palpebral ptosis and weakness as presenting symptoms of PARK-2. Mov Disord 24(2):303\u2013305. https:\/\/doi.org\/10.1002\/mds.22342","journal-title":"Mov Disord"},{"issue":"12","key":"6832_CR3","doi-asserted-by":"publisher","first-page":"6661","DOI":"10.1007\/s00415-022-11278-6","volume":"269","author":"L Magistrelli","year":"2022","unstructured":"Magistrelli L, Contaldi E, Milner AV, Gallo S, Sacchetti M, Fornaro R, Cantello R, Comi C (2022) A very early onset of juvenile parkinsonism. J Neurol 269(12):6661\u20136663. https:\/\/doi.org\/10.1007\/s00415-022-11278-6","journal-title":"J Neurol"},{"key":"6832_CR4","doi-asserted-by":"publisher","unstructured":"Kawabe H, Stegm\u00fcller J (2021) The role of E3 ubiquitin ligases in synapse function in the healthy and diseased brain. Mol Cell Neurosci 112:103602. https:\/\/doi.org\/10.1016\/j.mcn.2021.103602","DOI":"10.1016\/j.mcn.2021.103602"},{"issue":"4","key":"6832_CR5","doi-asserted-by":"publisher","first-page":"883","DOI":"10.1007\/s00415-019-09181-8","volume":"267","author":"T Kuusim\u00e4ki","year":"2020","unstructured":"Kuusim\u00e4ki T, Korpela J, Pekkonen E, Martikainen MH, Antonini A, Kaasinen V (2020) Deep brain stimulation for monogenic Parkinson\u2019s disease: a systematic review. J Neurol 267(4):883\u2013897. https:\/\/doi.org\/10.1007\/s00415-019-09181-8","journal-title":"J Neurol"},{"key":"6832_CR6","doi-asserted-by":"publisher","first-page":"2197","DOI":"10.1002\/mds.29182","volume":"37","author":"B P\u00e9rez-Due\u00f1as","year":"2022","unstructured":"P\u00e9rez-Due\u00f1as B, Gorman K, Marc\u00e9-Grau A, Ortigoza-Escobar JD, Macaya A, Danti FR, Barwick K, Papandreou A, Ng J, Meyer E, Mohammad SS, Smith M, Muntoni F, Munot P, Uusimaa J, Vieira P, Sheridan E, Guerrini R, Cobben J, Yilmaz S, De Grandis E, Dale RC, Pons R, Peall KJ, Leuzzi V, Kurian MA (2022) The genetic landscape of complex childhood-onset hyperkinetic movement disorders. Mov Disord 37:2197\u20132209. https:\/\/doi.org\/10.1002\/mds.29182","journal-title":"Mov Disord"},{"key":"6832_CR7","doi-asserted-by":"publisher","unstructured":"Morales-Briceno H, Fung VSC, Bhatia KP, Balint B (2022) Parkinsonism and dystonia: clinical spectrum and diagnostic clues. J Neurol Sci 433:120016. https:\/\/doi.org\/10.1016\/j.jns.2021.120016","DOI":"10.1016\/j.jns.2021.120016"},{"issue":"5","key":"6832_CR8","doi-asserted-by":"publisher","first-page":"625","DOI":"10.1002\/mds.27655","volume":"34","author":"TS Pearson","year":"2019","unstructured":"Pearson TS, Pons R, Ghaoui R, Sue CM (2019) Genetic mimics of cerebral palsy. Mov Disord 34(5):625\u2013636. https:\/\/doi.org\/10.1002\/mds.27655","journal-title":"Mov Disord"}],"updated-by":[{"DOI":"10.1007\/s10072-023-06864-z","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2023,5,23]],"date-time":"2023-05-23T00:00:00Z","timestamp":1684800000000}}],"container-title":["Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-023-06832-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10072-023-06832-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-023-06832-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,10]],"date-time":"2023-08-10T06:48:05Z","timestamp":1691650085000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10072-023-06832-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5,10]]},"references-count":8,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2023,9]]}},"alternative-id":["6832"],"URL":"https:\/\/doi.org\/10.1007\/s10072-023-06832-7","relation":{"correction":[{"id-type":"doi","id":"10.1007\/s10072-023-06864-z","asserted-by":"object"}]},"ISSN":["1590-1874","1590-3478"],"issn-type":[{"value":"1590-1874","type":"print"},{"value":"1590-3478","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,5,10]]},"assertion":[{"value":"30 January 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"26 April 2023","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 May 2023","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 May 2023","order":4,"name":"change_date","label":"Change Date","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Correction","order":5,"name":"change_type","label":"Change Type","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"A Correction to this paper has been published:","order":6,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"https:\/\/doi.org\/10.1007\/s10072-023-06864-z","URL":"https:\/\/doi.org\/10.1007\/s10072-023-06864-z","order":7,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors confirm that the ethics board clearance was not required for this work. The subject has provided written video consent. We confirm that we have read the journal\u2019s position on issues involved in ethical publication and affirm that this work is consistent with those guidelines.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"The patient has given consent for publication in scientific journal.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate"}},{"value":"The patient signed informed consent regarding publishing patient\u2019s data and images.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"No specific funding was received for this work and the authors declare that there are no conflicts of interest relevant to this work.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"The patient has given consent for publication for this journal.","order":6,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}}]}}