{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,18]],"date-time":"2026-05-18T07:08:03Z","timestamp":1779088083691,"version":"3.51.4"},"reference-count":9,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2025,3,3]],"date-time":"2025-03-03T00:00:00Z","timestamp":1740960000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,3,3]],"date-time":"2025-03-03T00:00:00Z","timestamp":1740960000000},"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"],"published-print":{"date-parts":[[2025,6]]},"abstract":"Abstract<\/jats:title>\n \n Background<\/jats:title>\n \n Mutations in the\n ATP13A2<\/jats:italic>\n gene have been implicated in various neurodegenerative disorders, including Kufor\u2010Rakeb syndrome (KRS), neuronal ceroid lipofuscinosis (NCL), hereditary spastic paraplegia (HSP), and amyotrophic lateral sclerosis (ALS). This report presents two Iranian families with\n ATP13A2<\/jats:italic>\n variants exhibiting atypical features of KRS.\n <\/jats:p>\n <\/jats:sec>\n \n Cases<\/jats:title>\n \n We highlight four patients from two consanguineous Iranian families with mutations in the\n ATP13A2<\/jats:italic>\n gene presenting with variable features of motor neuron disease as well as juvenile\u2010onset parkinsonism, and cognitive decline. The onset of symptoms ranged from 11 to 29\u2009years, with initial manifestations including gait disturbance, postural instability, and cognitive impairment. As the disease progressed, patients developed a range of neurological signs, such as dystonia, spasticity, and dysarthria.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n \n This report expands the phenotypic spectrum of\n ATP13A2<\/jats:italic>\n \u2010related disorders, highlighting the potential overlap of symptoms associated with KRS, ALS, and HSP.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/mdc3.70027","type":"journal-article","created":{"date-parts":[[2025,3,12]],"date-time":"2025-03-12T02:37:36Z","timestamp":1741747056000},"page":"852-857","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Motor Neuron Involvement in Two\n \n ATP13A2<\/i>\n <\/scp>\n \u2010Related Families:\n ALS<\/scp>\n And\n HSP<\/scp>\n \u2010Like Phenotypes"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2764-8128","authenticated-orcid":false,"given":"Sepehr","family":"Khosravi","sequence":"first","affiliation":[{"name":"Department of Neurology School of Medicine, Iran University of Medical Sciences Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7223-2391","authenticated-orcid":false,"given":"Elaheh","family":"Amini","sequence":"additional","affiliation":[{"name":"Department of Neurology School of Medicine, Iran University of Medical Sciences Tehran Iran"},{"name":"Department of Neurology The Five Senses Health Institute, Iran University of Medical Sciences Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maziar","family":"Emamikhah","sequence":"additional","affiliation":[{"name":"Morton and Gloria Shulman Movement Disorders Clinic and the Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital and Division of Neurology, University of Toronto Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0390-2475","authenticated-orcid":false,"given":"Afagh","family":"Alavi","sequence":"additional","affiliation":[{"name":"Genetics Research Center, University of Social Welfare and Rehabilitation Sciences Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anthony E.","family":"Lang","sequence":"additional","affiliation":[{"name":"Morton and Gloria Shulman Movement Disorders Clinic and the Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital and Division of Neurology, University of Toronto Toronto Ontario Canada"},{"name":"Krembil Brain Institute Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5409-1804","authenticated-orcid":false,"given":"Mohammad","family":"Rohani","sequence":"additional","affiliation":[{"name":"Department of Neurology School of Medicine, Iran University of Medical Sciences Tehran Iran"},{"name":"Department of Neurology The Five Senses Health Institute, Iran University of Medical Sciences Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,3,3]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40246-019-0203-9"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.20511"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/mdc3.12570"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2023.1252400"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/aww307"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/mdc3.12567"},{"issue":"8","key":"e_1_2_8_8_1","first-page":"2537","article-title":"Kufor\u2010Rakeb syndrome in two Iranian brothers due to different and novel mutations","volume":"4","author":"Mosaddeghi\u2010Heris R","year":"2023","journal-title":"J Clin Imaging Med Case Rep"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1052"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/aww111"}],"container-title":["Movement Disorders Clinical Practice"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mdc3.70027","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mdc3.70027","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mdc3.70027","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,18]],"date-time":"2026-05-18T06:19:09Z","timestamp":1779085149000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mdc3.70027"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,3,3]]},"references-count":9,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2025,6]]}},"alternative-id":["10.1002\/mdc3.70027"],"URL":"https:\/\/doi.org\/10.1002\/mdc3.70027","archive":["Portico"],"relation":{},"ISSN":["2330-1619","2330-1619"],"issn-type":[{"value":"2330-1619","type":"print"},{"value":"2330-1619","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,3,3]]},"assertion":[{"value":"2024-11-04","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-02-11","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-03-03","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}