{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T07:01:11Z","timestamp":1790665271055,"version":"4.1.0"},"reference-count":19,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2019,12,14]],"date-time":"2019-12-14T00:00:00Z","timestamp":1576281600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000738","name":"U.S. Department of Veterans Affairs","doi-asserted-by":"publisher","award":["101 CX001702"],"award-info":[{"award-number":["101 CX001702"]}],"id":[{"id":"10.13039\/100000738","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007512","name":"Nancy and Buster Alvord Endowment","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007512","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000135","name":"NIH Blueprint for Neuroscience Research","doi-asserted-by":"publisher","award":["1R01NS069719"],"award-info":[{"award-number":["1R01NS069719"]}],"id":[{"id":"10.13039\/100000135","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000135","name":"NIH Blueprint for Neuroscience Research","doi-asserted-by":"publisher","award":["P50AG005136"],"award-info":[{"award-number":["P50AG005136"]}],"id":[{"id":"10.13039\/100000135","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2020,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Adenylate cyclase 5 (ADCY5)\u2010related dyskinesia is a childhood\u2010onset movement disorder. Manifestations vary in frequency and severity and may include chorea, tremor, dystonia, facial twitches, myoclonus, axial hypotonia, and limb hypertonia. Psychosis is likely part of the broader spectrum. ADCY5 is widely expressed in the brain, especially in the striatum. Previous reports of brain autopsies of 2 subjects with likely ADCY5\u2010dyskinesia were limited by the absence of a molecular diagnosis. In 1 case, normal gross pathology was reported. In the other case, ADCY5 expression was not examined and neuropathological findings were confounded by age and comorbidities.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To examine ADCY5 expression and neuropathological changes in ADCY5\u2010dyskinesia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>An extensive brain autopsy, including immunohistochemical analyses with antibodies to paired helical filament tau, \u03b1\u2010synuclein, amyloid\u2010\u03b2, microtubule\u2010associated protein 2, and ADCY5, was performed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The patient, with a p.M1029K ADCY5 variant, had severe dyskinesias from early childhood, later recurrent episodes of psychosis, and died at age 46. Gross pathology was unremarkable, but we detected increased immunoreactivity for ADCY5 in neurons in multiple brain regions. Despite no history of brain trauma to suggest chronic traumatic encephalopathy, we found tau deposits in the deep cortical sulci, midbrain, and hippocampus with minimal amyloid pathology and no Lewy bodies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>We present the first brain autopsy findings in a molecularly proven case of ADCY5\u2010dyskinesia, showing increased ADCY5 immunoreactivity in neurons and evidence of tau deposition. Additional patients will need to be studied to determine whether increased immunoreactivity for ADCY5 is a signature for ADCY5\u2010dyskinesia and whether this disease has a tauopathy component.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mdc3.12873","type":"journal-article","created":{"date-parts":[[2019,11,19]],"date-time":"2019-11-19T11:27:54Z","timestamp":1574162874000},"page":"70-77","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Hyperphosphorylated Tau, Increased Adenylate Cyclase 5 (ADCY5) Immunoreactivity, but No Neuronal Loss in ADCY5\u2010Dyskinesia"],"prefix":"10.1002","volume":"7","author":[{"given":"Dong\u2010Hui","family":"Chen","sequence":"first","affiliation":[{"name":"Department of Neurology University of Washington  Seattle Washington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caitlin S.","family":"Latimer","sequence":"additional","affiliation":[{"name":"Department of Pathology, Neuropathology Division University of Washington  Seattle Washington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min","family":"Spencer","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Medical Genetics University of Washington  Seattle Washington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Prasanthi","family":"Karna","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Medical Genetics University of Washington  Seattle Washington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis F.","family":"Gonzalez\u2010Cuyar","sequence":"additional","affiliation":[{"name":"Department of Pathology, Neuropathology Division University of Washington  Seattle Washington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie Y.","family":"Davis","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Washington  Seattle Washington USA"},{"name":"Department of Neurology VA Puget Sound Health Care System  Seattle Washington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C. Dirk","family":"Keene","sequence":"additional","affiliation":[{"name":"Department of Pathology, Neuropathology Division University of Washington  Seattle Washington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas D.","family":"Bird","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Washington  Seattle Washington USA"},{"name":"Department of Medicine, Division of Medical Genetics University of Washington  Seattle Washington USA"},{"name":"Geriatric Research, Education, and Clinical Center (GRECC) VA Puget Sound Health Care System  Seattle Washington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy H.","family":"Raskind","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Medical Genetics University of Washington  Seattle Washington USA"},{"name":"Geriatric Research, Education, and Clinical Center (GRECC) VA Puget Sound Health Care System  Seattle Washington USA"},{"name":"Mental Illness Research, Education, and Clinical Center (MIRECC), VA Puget Sound Health Care System  Seattle Washington USA"},{"name":"Department of Psychiatry and Behavioral Sciences University of Washington  Seattle Washington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,12,14]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000002058"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.26598"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jocn.2018.08.049"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000193"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2019.02.039"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-006-6072-0"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24119"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcp.2019.02.005"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.26115"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.5334\/tohm.514"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/nan.12216"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.27523"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-011-0910-3"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jalz.2011.10.007"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-014-1349-0"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-015-1509-x"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-015-1515-z"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00310030"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.3233\/JAD-180528"}],"container-title":["Movement Disorders Clinical Practice"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mdc3.12873","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mdc3.12873","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mdc3.12873","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T14:40:46Z","timestamp":1760971246000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mdc3.12873"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,12,14]]},"references-count":19,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2020,1]]}},"alternative-id":["10.1002\/mdc3.12873"],"URL":"https:\/\/doi.org\/10.1002\/mdc3.12873","archive":["Portico"],"relation":{},"ISSN":["2330-1619","2330-1619"],"issn-type":[{"value":"2330-1619","type":"print"},{"value":"2330-1619","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,12,14]]},"assertion":[{"value":"2019-07-24","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-11-12","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-12-14","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}