{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,31]],"date-time":"2026-07-31T04:24:27Z","timestamp":1785471867963,"version":"3.56.0"},"reference-count":20,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2017,2,25]],"date-time":"2017-02-25T00:00:00Z","timestamp":1487980800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["BR4328.2\u20101"],"award-info":[{"award-number":["BR4328.2\u20101"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["SFB936"],"award-info":[{"award-number":["SFB936"]}],"id":[{"id":"10.13039\/501100001659","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":[[2017,5]]},"abstract":"<jats:sec><jats:title>Background and purpose<\/jats:title><jats:p>X\u2010linked dystonia\u2010parkinsonism (XDP) is an inherited neurodegenerative adult\u2010onset movement disorder associated with striatal atrophy. As the dopaminergic system has not yet been systemically studied in this basal ganglia model disease, it is unclear whether nigrostriatal dysfunction contributes to parkinsonism in XDP.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Pre\u2010 and post\u2010synaptic dopaminergic function was assessed in XDP. A total of 10 <jats:sup>123<\/jats:sup>jod\u2010benzamide (IBZM) single\u2010photon emission computed tomography (SPECT) images were obtained for nine patients aged 42.3 \u00b1 9.5 years (SD; range 30\u201352) and one asymptomatic mutation carrier (38 years), and four ioflupane (FP\u2010CIT) SPECT images were obtained for four patients, aged 41.5 \u00b1 11.6 years (range 30\u201352 years). Structural magnetic resonance imaging was also performed for all mutation carriers and 10 matched healthy controls.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>All patients were men who suffered from severe, disabling segmental or generalized dystonia and had varying degrees of parkinsonism. IBZM SPECT images were pathological in 8\/9 symptomatic patients with distinct reduced post\u2010synaptic tracer uptake in the caudate nucleus and putamen, and unremarkable in the asymptomatic mutation carrier. Longer disease duration was correlated with lower IBZM binding ratios. All subjects exhibited slightly reduced FP\u2010CIT uptake values compared to controls for each analyzed region (\u221237% to \u221241%) which may be linked to basal ganglia volume loss. Visual inspection revealed physiological FP\u2010CIT uptake in 1\/4 patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This nuclear imaging study provides evidence that the functional decline of post\u2010synaptic dopaminergic neurotransmission is related to disease duration and ongoing neurodegeneration. Given the severe striatal cell loss which could be verified with post\u2010synaptic nuclear imaging, both parkinsonism and dystonia in XDP are probably mainly due to striatal dysfunction.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.13256","type":"journal-article","created":{"date-parts":[[2017,2,25]],"date-time":"2017-02-25T05:02:40Z","timestamp":1487998960000},"page":"680-686","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":33,"title":["Striatal dysfunction in X\u2010linked dystonia\u2010parkinsonism is associated with disease progression"],"prefix":"10.1111","volume":"24","author":[{"given":"N.","family":"Br\u00fcggemann","sequence":"first","affiliation":[{"name":"Department of Neurology University of L\u00fcbeck L\u00fcbeck Germany"},{"name":"Institute of Neurogenetics University of L\u00fcbeck L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. L.","family":"Rosales","sequence":"additional","affiliation":[{"name":"Department of Neurology and Psychiatry Faculty of Medicine and Surgery University of Santo Tomas Manila Philippines"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. L.","family":"Waugh","sequence":"additional","affiliation":[{"name":"Boston Children's Hospital Massachusetts General Hospital Harvard University Boston MA USA"},{"name":"Departments of Psychiatry and Neurology Athinoula A. Martinos Center for Biomedical Imaging Massachusetts General Hospital Charlestown MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. J.","family":"Blood","sequence":"additional","affiliation":[{"name":"Departments of Psychiatry and Neurology Athinoula A. Martinos Center for Biomedical Imaging Massachusetts General Hospital Charlestown MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Domingo","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics University of L\u00fcbeck L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Heldmann","sequence":"additional","affiliation":[{"name":"Department of Neurology University of L\u00fcbeck L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. D.","family":"Jamora","sequence":"additional","affiliation":[{"name":"Department of Neurosciences College of Medicine, Philippine General Hospital University of the Philippines Manila Manila Philippines"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"M\u00fcnchau","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics University of L\u00fcbeck L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T. F.","family":"M\u00fcnte","sequence":"additional","affiliation":[{"name":"Department of Neurology University of L\u00fcbeck L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L. V.","family":"Lee","sequence":"additional","affiliation":[{"name":"Philippine Children's Medical Center Quezon City Philippines"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Buchmann","sequence":"additional","affiliation":[{"name":"Section of Nuclear Imaging Institute of Radiology L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Klein","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics University of L\u00fcbeck L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,2,25]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.3109\/00207454.2010.526728"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-016-2159-4"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.292"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.3109\/00207454.2010.526729"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.870080328"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20513"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1353-8020(02)00042-1"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2016.07.012"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.21462"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.43.8.1555"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410340214"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2015.06.010"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.wco.0000137538.84115.3c"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00259-006-0258-4"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2013.05.005"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1097\/RLU.0b013e31828162cd"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clineuro.2010.07.014"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.54.9.1753"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/120.3.503"},{"key":"e_1_2_8_21_1","first-page":"362","article-title":"Sex linked recessive dystonia parkinsonism of Panay, Philippines (XDP)","volume":"54","author":"Lee LV","year":"2001","journal-title":"Mol Pathol"}],"container-title":["European Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fene.13256","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ene.13256","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T09:19:58Z","timestamp":1696324798000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ene.13256"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,2,25]]},"references-count":20,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2017,5]]}},"alternative-id":["10.1111\/ene.13256"],"URL":"https:\/\/doi.org\/10.1111\/ene.13256","archive":["Portico"],"relation":{},"ISSN":["1351-5101","1468-1331"],"issn-type":[{"value":"1351-5101","type":"print"},{"value":"1468-1331","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,2,25]]},"assertion":[{"value":"2016-08-14","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2017-01-11","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2017-02-25","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}