{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T13:01:36Z","timestamp":1793278896653,"version":"4.5.0"},"reference-count":28,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2024,9,3]],"date-time":"2024-09-03T00:00:00Z","timestamp":1725321600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Childhood neurodegenerative diseases often pose a challenge to clinicians to diagnose because of the degree of genetic heterogeneity and variable presentations. Here, we present a child with progressive neurodegeneration consisting of spasticity, dystonia, and ataxia in which postmortem pathological analysis led to the diagnosis of\n                      <jats:italic>interferon regulatory factor 2 binding protein like<\/jats:italic>\n                      (\n                      <jats:italic>IRF2BPL<\/jats:italic>\n                      )\u2010related disorder.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Detailed postmortem gross and histological examination was conducted, and findings consistent with dentatorubral\u2010pallidoluysian atrophy (DRPLA) and included polyglutamine (polyQ) inclusions. Follow up testing for the CAG repeat expansion at\n                      <jats:italic>ATN1<\/jats:italic>\n                      was non\u2010diagnostic.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Subsequent exome sequencing reanalysis of the research exome identified a pathogenic de novo\n                      <jats:italic>IRF2BPL<\/jats:italic>\n                      variant. The\n                      <jats:italic>IRF2BPL<\/jats:italic>\n                      c.562C&gt;T, p.(Arg188Ter) variant, distal to the polyQ repeat tract, results in variable mRNA levels depending on the cell type examined with decreased mRNA in the brain, as well as destabilization of the protein product and corresponding downstream molecular abnormalities in patient derived cells.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      We provide the first detailed pathological description for\n                      <jats:italic>IRF2BPL<\/jats:italic>\n                      \u2010related disorder, termed NEDAMSS (neurodevelopmental disorder with regression, abnormal movements, loss of speech and seizures; Mendelian Inheritance in Man, 618088) and evidence for the inclusion of this condition in the differential diagnosis of spastic\u2010ataxic neurodegenerative conditions, reminiscent of DRPLA. Although the individuals with NEDAMSS do not carry an expansion, the polyQ repeat tract may play a role in the pathological inclusions that would represent a novel disease mechanism for polyQ repeats. \u00a9 2024 International Parkinson and Movement Disorder Society.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mds.29938","type":"journal-article","created":{"date-parts":[[2024,9,3]],"date-time":"2024-09-03T04:45:44Z","timestamp":1725338744000},"page":"2102-2109","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["<scp>IRF2BPL<\/scp>\n                    \u2010Related Disorder, Causing Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech and Seizures (\n                    <scp>NEDAMSS<\/scp>\n                    ) Is Characterized by Pathology Consistent with\n                    <scp>DRPLA<\/scp>"],"prefix":"10.1002","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7000-6710","authenticated-orcid":false,"given":"Sunita","family":"Venkateswaran","sequence":"first","affiliation":[{"name":"Children's Hospital of Eastern Ontario Research Institute University of Ottawa  Ottawa Canada"},{"name":"Children's Hospital, London Health Sciences Centre Western University  London Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean","family":"Michaud","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine University of Ottawa  Ottawa Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoko","family":"Ito","sequence":"additional","affiliation":[{"name":"Children's Hospital of Eastern Ontario Research Institute University of Ottawa  Ottawa Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Geraghty","sequence":"additional","affiliation":[{"name":"Children's Hospital of Eastern Ontario Research Institute University of Ottawa  Ottawa Canada"},{"name":"Newborn Screening Ontario  Ottawa Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evan C.","family":"Lewis","sequence":"additional","affiliation":[{"name":"University of Toronto  Toronto Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin","family":"Ellezam","sequence":"additional","affiliation":[{"name":"Division of Pathology CHU Ste\u2010Justine, University of Montr\u00e9al  Montr\u00e9al Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kym M.","family":"Boycott","sequence":"additional","affiliation":[{"name":"Children's Hospital of Eastern Ontario Research Institute University of Ottawa  Ottawa Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David A.","family":"Dyment","sequence":"additional","affiliation":[{"name":"Children's Hospital of Eastern Ontario Research Institute University of Ottawa  Ottawa Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristin D.","family":"Kernohan","sequence":"additional","affiliation":[{"name":"Children's Hospital of Eastern Ontario Research Institute University of Ottawa  Ottawa Canada"},{"name":"Newborn Screening Ontario  Ottawa Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Care4Rare Canada Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,9,3]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12017-020-08601-7"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13760-019-01160-0"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-319-67144-4_25"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.07.011"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-genom-083118-015345"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11033-019-05109-7"},{"key":"e_1_2_7_8_1","first-page":"1","article-title":"De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy","volume":"4","author":"Tran Mau\u2010Them F","year":"2018","journal-title":"Genet Med"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2022.04.010"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2019.01.017"},{"key":"e_1_2_7_11_1","first-page":"1","article-title":"IRF2BPL is associated with neurological phenotypes","volume":"2","author":"Marcogliese PC","year":"2018","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61328"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12883-023-03077-x"},{"issue":"6","key":"e_1_2_7_14_1","first-page":"506","article-title":"Clinical features of epilepsy in children with IRF2BPL gene variation","volume":"59","author":"Niu Q","year":"2021","journal-title":"Zhonghua Er Ke Za Zhi"},{"key":"e_1_2_7_15_1","article-title":"IRF2BPL as a novel causative gene for progressive myoclonus epilepsy","volume":"1","author":"Gardella E","year":"2023","journal-title":"Epilepsia"},{"key":"e_1_2_7_16_1","first-page":"1","article-title":"IRF2BPL: a new genotype for progressive myoclonus epilepsies","volume":"2023","author":"Costa C","year":"2022","journal-title":"Epilepsia"},{"issue":"94","key":"e_1_2_7_17_1","first-page":"22","article-title":"Adult onset familiar dystonia\u2010plus syndrome: a novel presentation of IRF2BPL\u2010associated neurodegeneration","volume":"2022","author":"Antonelli F","year":"2021","journal-title":"Parkinsonism Relat Disord"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2020.11.006"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1177\/11795735231181467"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2020.03.030"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61401"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.3390\/jpm10040281"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000200096"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2019.09.020"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13618"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2022.111751"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/0896-6273(95)90138-8"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.3390\/brainsci7100128"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1126\/sciadv.abl5613"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.29938","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T14:12:53Z","timestamp":1760969573000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.29938"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,9,3]]},"references-count":28,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2024,11]]}},"alternative-id":["10.1002\/mds.29938"],"URL":"https:\/\/doi.org\/10.1002\/mds.29938","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"value":"0885-3185","type":"print"},{"value":"1531-8257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,9,3]]},"assertion":[{"value":"2024-03-08","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-07-08","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-09-03","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}