{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T02:12:54Z","timestamp":1778638374774,"version":"3.51.4"},"reference-count":12,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T00:00:00Z","timestamp":1778544000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T00:00:00Z","timestamp":1778544000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Advances in genetic testing have allowed for refined phenotypic categorization of pediatric\u2010onset genetic movement disorders.\n                      <jats:styled-content style=\"fixed-case\">ADCY5<\/jats:styled-content>\n                      \u2010related movement disorder is among this group of conditions for which we have begun to better understand a genotype\u2013phenotype correlation.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Cases<\/jats:title>\n                    <jats:p>This case series details the clinical course of three biological brothers with autosomal recessively inherited biallelic variants in the ADCY5 gene. Each brother demonstrates a varied severity and combination of mixed movement disorder phenomenology, including parkinsonism, dystonia, and myoclonus exemplified in videos.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      The phenotype classically associated with\n                      <jats:styled-content style=\"fixed-case\">ADCY5<\/jats:styled-content>\n                      \u2010related movement disorders, particularly when inherited recessively, should be expanded to include a wider spectrum of severity as well as early\u2010onset parkinsonism. Adjusting the classically recognized phenotype in this way will help to prevent delays to genetic testing, diagnosis, and treatment while informing prognostic counseling.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mdc3.70678","type":"journal-article","created":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T02:00:26Z","timestamp":1778637626000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Parkinsonism in Childhood, a Clue to Autosomal Recessive\n                    <scp>ADCY5<\/scp>\n                    \u2010Related Movement Disorder?"],"prefix":"10.1002","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0722-259X","authenticated-orcid":false,"given":"Alexandra L.","family":"DeArias","sequence":"first","affiliation":[{"name":"Division of Child Neurology, Department of Neurology University of Rochester Medical Center (URMC)  Rochester New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter E.","family":"Morrison","sequence":"additional","affiliation":[{"name":"Division of Child Neurology, Department of Neurology University of Rochester Medical Center (URMC)  Rochester New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer A.","family":"Vermilion","sequence":"additional","affiliation":[{"name":"Division of Child Neurology, Department of Neurology University of Rochester Medical Center (URMC)  Rochester New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,5,12]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"crossref","first-page":"1048","DOI":"10.1002\/mdc3.13796","article-title":"Scoping review on ADCY5\u2010related movement disorders","volume":"10","author":"Menon PJ","year":"2023","journal-title":"Mov Disord Clin Pract"},{"key":"e_1_2_9_3_1","doi-asserted-by":"crossref","DOI":"10.1212\/NXG.0000000000000193","article-title":"Autosomal recessive inheritance of ADCY5\u2010related generalized dystonia and myoclonus","volume":"3","author":"Barrett MJ","year":"2017","journal-title":"Neurol Genet"},{"key":"e_1_2_9_4_1","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1016\/j.parkreldis.2019.02.039","article-title":"Autosomal recessive ADCY5\u2010related dystonia and myoclonus: expanding the genetic spectrum of ADCY5\u2010related movement disorders","volume":"64","author":"Bohlega SA","year":"2019","journal-title":"Parkinsonism Relat Disord"},{"key":"e_1_2_9_5_1","doi-asserted-by":"crossref","first-page":"1140","DOI":"10.1002\/mdc3.13310","article-title":"A novel homozygous ADCY5 variant is associated with a neurodevelopmental disorder and movement abnormalities","volume":"8","author":"Kaiyrzhanov R","year":"2021","journal-title":"Mov Disord Clin Pract"},{"key":"e_1_2_9_6_1","first-page":"1412","article-title":"A first report of homozygous missense mutation in the ADCY5 gene related to an autosomal dominant Dyskynesia syndrome","volume":"27","author":"Sagi\u2010Dain L","year":"2019","journal-title":"Eur J Hum Genet"},{"key":"e_1_2_9_7_1","doi-asserted-by":"crossref","first-page":"2975","DOI":"10.1007\/s10072-021-05152-y","article-title":"Homozygous ADCY5 mutation causes early\u2010onset movement disorder with severe intellectual disability","volume":"42","author":"Okamoto N","year":"2021","journal-title":"Neurol Sci"},{"key":"e_1_2_9_8_1","doi-asserted-by":"crossref","first-page":"1968","DOI":"10.1002\/mdc3.70175","article-title":"ADCY5\u2010mosaic variants: a diagnosis not to Be missed","volume":"12","author":"Innocenti A","year":"2025","journal-title":"Mov Disord Clin Pract"},{"key":"e_1_2_9_9_1","doi-asserted-by":"crossref","first-page":"D1062","DOI":"10.1093\/nar\/gkx1153","article-title":"ClinVar: improving access to variant interpretations and supporting evidence","volume":"46","author":"Landrum MJ","year":"2018","journal-title":"Nucleic Acids Res"},{"key":"e_1_2_9_10_1","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards S","year":"2015","journal-title":"Genet Med"},{"key":"e_1_2_9_11_1","doi-asserted-by":"crossref","first-page":"1104","DOI":"10.1002\/mds.28495","article-title":"An update on the phenotype, genotype and neurobiology of ADCY5\u2010related disease","volume":"36","author":"Ferrini A","year":"2021","journal-title":"Mov Disord"},{"key":"e_1_2_9_12_1","doi-asserted-by":"crossref","first-page":"1077","DOI":"10.1007\/s10545-018-0205-0","article-title":"Postsynaptic movement disorders: clinical phenotypes, genotypes, and disease mechanisms","volume":"41","author":"Abela L","year":"2018","journal-title":"J Inherit Metab Dis"},{"key":"e_1_2_9_13_1","doi-asserted-by":"crossref","first-page":"16936","DOI":"10.1074\/jbc.C300075200","article-title":"Motor dysfunction in type 5 adenylyl cyclase\u2010null mice","volume":"278","author":"Iwamoto T","year":"2003","journal-title":"J Biol Chem"}],"container-title":["Movement Disorders Clinical 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