{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,18]],"date-time":"2026-04-18T01:43:29Z","timestamp":1776476609979,"version":"3.51.2"},"reference-count":36,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2023,12,21]],"date-time":"2023-12-21T00:00:00Z","timestamp":1703116800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Medicina"],"abstract":"<jats:p>Chorea is a hyperkinetic movement disorder, accompanied by dystonia, myoclonus, tics, stereotypies, and tremors. It is characterized by excessive, purposeless movements that are distressing, irregularly timed, and randomly distributed. Chorea can be present in many diseases, such as hereditary, metabolic disturbance, drug-induced, and functional disorders, and, rarely, genetic, autoimmune, and infectious diseases. Primary myelofibrosis (PMF) is a myeloproliferative neoplasm that leads to ineffective clonal hematopoiesis, fibrous tissue deposits in the bone marrow, extramedullary hematopoiesis, and splenomegaly. In rare cases, following uncertain pathological mechanisms, it can present with chorea, particularly affecting the limbs, head, and orofaciolingual muscles. We present a case of a male patient with evolving PMF over several years who was admitted for progressive cognitive impairment and generalized involuntary movement disorder. We also present a review of all cases of myeloproliferative disorders presenting with chorea published in the last 40 years.<\/jats:p>","DOI":"10.3390\/medicina60010018","type":"journal-article","created":{"date-parts":[[2023,12,21]],"date-time":"2023-12-21T08:16:02Z","timestamp":1703146562000},"page":"18","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Chorea and Cognitive Impairment in JAK2V617F-Positive Myeloproliferative Disorders: A Case Report and Literature Review"],"prefix":"10.3390","volume":"60","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6775-1173","authenticated-orcid":false,"given":"Ioana","family":"Butnariu","sequence":"first","affiliation":[{"name":"Department of Clinical Neurosciences, \u201cCarol Davila\u201d University of Medicine and Pharmacy, 020023 Bucharest, Romania"},{"name":"Neurology Department, National Institute of Neurology and Neurovascular Diseases, 041915 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dana","family":"Antonescu-Ghelmez","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences, \u201cCarol Davila\u201d University of Medicine and Pharmacy, 020023 Bucharest, Romania"},{"name":"Neurology Department, National Institute of Neurology and Neurovascular Diseases, 041915 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adriana","family":"Moraru","sequence":"additional","affiliation":[{"name":"Neurology Department, National Institute of Neurology and Neurovascular Diseases, 041915 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela Nicoleta","family":"Anghel","sequence":"additional","affiliation":[{"name":"Neurology Department, National Institute of Neurology and Neurovascular Diseases, 041915 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Florentina Melania","family":"Cojocaru","sequence":"additional","affiliation":[{"name":"Neurology Department, National Institute of Neurology and Neurovascular Diseases, 041915 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sorin","family":"Tu\u021b\u0103","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences, \u201cCarol Davila\u201d University of Medicine and Pharmacy, 020023 Bucharest, Romania"},{"name":"Neurology Department, National Institute of Neurology and Neurovascular Diseases, 041915 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2520-5486","authenticated-orcid":false,"given":"Adela Magdalena","family":"Ciobanu","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences, \u201cCarol Davila\u201d University of Medicine and Pharmacy, 020023 Bucharest, Romania"},{"name":"\u201cProf. Dr. Alexandru Obregia\u201d Clinical Psychiatry Hospital, 041914 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Florian","family":"Antonescu","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences, \u201cCarol Davila\u201d University of Medicine and Pharmacy, 020023 Bucharest, Romania"},{"name":"Neurology Department, National Institute of Neurology and Neurovascular Diseases, 041915 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,12,21]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"61","DOI":"10.17712\/nsj.2019.1.20180301","article-title":"Irreversible chorea as the initial presentation of polycythemia rubra vera in an elderly woman","volume":"24","author":"Bhattacharjee","year":"2019","journal-title":"Neurosciences"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"244","DOI":"10.4997\/jrcpe.2016.407","article-title":"Chorea in the Older Adult: A Full Blooded Answer","volume":"46","author":"Degnan","year":"2016","journal-title":"J. R. Coll. Physicians Edinb."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"7","DOI":"10.3324\/haematol.2008.001271","article-title":"Clinical relevance of JAK2 (V617F) mutant allele burden","volume":"94","author":"Passamonti","year":"2009","journal-title":"Haematologica"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"106","DOI":"10.4103\/0972-2327.128569","article-title":"Essential thrombocythemia: Rare cause of chorea","volume":"17","author":"Venkatesan","year":"2014","journal-title":"Ann. Indian Acad. Neurol."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"57","DOI":"10.2478\/bjmg-2019-0007","article-title":"Janus kinase V617F mutation detection in patients with myelofibrosis","volume":"22","author":"Nikolova","year":"2019","journal-title":"Balk. J. Med. Genet."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1002\/(SICI)1096-8652(199905)61:1<10::AID-AJH3>3.0.CO;2-I","article-title":"Population-based incidence and survival figures in essential thrombocythemia and agnogenic myeloid metaplasia: An Olmsted county study, 1976\u20131995","volume":"61","author":"Mesa","year":"1999","journal-title":"Am. J. Hematol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1111\/joim.13019","article-title":"Incidence of myeloproliferative neoplasms\u2014Trends by subgroup and age in a population-based study in Sweden","volume":"287","author":"Hultcrantz","year":"2020","journal-title":"J. Intern. Med."},{"key":"ref_8","first-page":"112","article-title":"JAK2 V617F: A single mutation in the myeloproliferative group of disorders","volume":"75","author":"McLornan","year":"2006","journal-title":"Ulst. Med. J."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1038\/s41408-019-0236-2","article-title":"Myelofibrosis in 2019: Moving beyond JAK2 inhibition","volume":"9","author":"Schieber","year":"2019","journal-title":"Blood Cancer J."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"680","DOI":"10.1182\/blood-2016-10-695957","article-title":"Diagnosis, risk stratification, and response evaluation in classical myeloproliferative neoplasms","volume":"129","author":"Rumi","year":"2017","journal-title":"Blood"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1017\/S0317167100007149","article-title":"Chorea in the Elderly with Mutation Positive Polycythemia Vera: A Case Report","volume":"36","author":"Kumar","year":"2009","journal-title":"Can. J. Neurol. Sci. J. Can. Sci. Neurol."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"563","DOI":"10.2147\/NDT.S60694","article-title":"Chorea disclosing a polycythemia vera","volume":"10","author":"Liu","year":"2014","journal-title":"Neuropsychiatr. Dis. Treat."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1002\/mdc3.13567","article-title":"Chorea Associated with JAK2V617F-Positive Essential Thrombocythemia","volume":"10","author":"Calculli","year":"2023","journal-title":"Mov. Disord. Clin. Pract."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1002\/mdc3.13105","article-title":"Late-Onset Chorea in JAK2 Associated Essential Thrombocythemia","volume":"8","author":"Magrinelli","year":"2021","journal-title":"Mov. Disord. Clin. Pract."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"864","DOI":"10.1177\/014107688507801017","article-title":"Chorea with Transitional Myeloproliferative Disease","volume":"78","author":"Coppack","year":"1985","journal-title":"J. R. Soc. Med."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"4659","DOI":"10.2174\/092986711797379267","article-title":"A Structure-Function Perspective of Jak2 Mutations and Implications for Alternate Drug Design Strategies: The Road not Taken","volume":"18","author":"Gnanasambandan","year":"2011","journal-title":"Curr. Med. Chem."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"1349","DOI":"10.2147\/JIR.S353489","article-title":"Role of JAK2\/STAT3 Signaling Pathway in the Tumorigenesis, Chemotherapy Resistance, and Treatment of Solid Tumors: A Systemic Review","volume":"15","author":"Bogale","year":"2022","journal-title":"J. Inflamm. Res."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1002\/mdc3.12935","article-title":"Generalized Chorea and JAK2V617F Mutation-Positive Myeloproliferative Disorders","volume":"7","author":"Moore","year":"2020","journal-title":"Mov. Disord. Clin. Pract."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"e21757","DOI":"10.1097\/MD.0000000000021757","article-title":"Rapidly progressive cognitive impairment: An unusual presentation of cerebral venous thrombosis caused by JAK2 V617F-positive primary myelofibrosis","volume":"99","author":"Jin","year":"2020","journal-title":"Medicine"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1016\/j.vph.2005.08.021","article-title":"JANUS under stress\u2014Role of JAK\/STAT signaling pathway in vascular diseases","volume":"43","author":"Grote","year":"2005","journal-title":"Vascul. Pharmacol."},{"key":"ref_21","doi-asserted-by":"crossref","unstructured":"Farina, M., Bernardi, S., Polverelli, N., D\u2019Adda, M., Malagola, M., Bosio, K., Re, F., Almici, C., Dunbar, A., and Levine, R.L. (2021). Comparative Mutational Profiling of Hematopoietic Progenitor Cells and Circulating Endothelial Cells (CECs) in Patients with Primary Myelofibrosis. Cells, 10.","DOI":"10.3390\/cells10102764"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1136\/jnnp.65.4.436","article-title":"Dystonia and chorea in acquired systemic disorders","volume":"65","author":"Janavs","year":"1998","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1007\/BF00320237","article-title":"Chorea in polycythemia vera: A rare presentation of hyperviscosity","volume":"58","author":"Cohen","year":"1989","journal-title":"Blut."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"86","DOI":"10.4103\/0028-3886.108027","article-title":"Hemichorea, a rare presenting feature of polycythemia vera","volume":"61","author":"Dass","year":"2013","journal-title":"Neurol. India"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1007\/BF00313895","article-title":"Chorea and polycythaemia","volume":"232","author":"Mas","year":"1985","journal-title":"J. Neurol."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"658","DOI":"10.1136\/pmj.76.900.658","article-title":"Chorea disclosing deterioration of polycythaemia vera","volume":"76","author":"Nazabal","year":"2000","journal-title":"Postgrad. Med. J."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"706","DOI":"10.1159\/000516441","article-title":"Neuropsychiatric Derangement by Polycythemia Vera: A Case Report of an Unexpected Disease Presentation and Review of the Literature","volume":"144","author":"Herbers","year":"2021","journal-title":"Acta Haematol."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1111\/j.1532-5415.2011.03850.x","article-title":"Chorea and a Frontal Lobe Syndrome: A Rare Neurological Presentation of Polycythemia Vera; A Case Report","volume":"60","author":"Severs","year":"2012","journal-title":"J. Am. Geriatr. Soc."},{"key":"ref_29","first-page":"bcr-2017","article-title":"Sudden hemichorea and frontal lobe syndrome: A rare presentation of unbalanced polycythaemia vera","volume":"2018","author":"Mateos","year":"2018","journal-title":"BMJ Case Rep."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"2054","DOI":"10.1007\/s00415-011-6069-y","article-title":"Reversible abnormal functional neuroimaging presentations in polycythemia vera with chorea","volume":"258","author":"Huang","year":"2011","journal-title":"J. Neurol."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"e79","DOI":"10.1016\/j.revmed.2010.06.015","article-title":"Chor\u00e9e r\u00e9v\u00e9lant une polyglobulie primitive","volume":"32","author":"Lamloum","year":"2011","journal-title":"Rev. M\u00e9d. Interne"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"1239","DOI":"10.1182\/blood-2012-12-468751","article-title":"Hemichorea in a patient with JAK2V617F blood cells","volume":"121","author":"Lew","year":"2013","journal-title":"Blood"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"e1089","DOI":"10.1212\/WNL.0000000000006160","article-title":"Teaching Video NeuroImages: A treatable rare cause of chorea","volume":"91","author":"Rossi","year":"2018","journal-title":"Neurology"},{"key":"ref_34","first-page":"001039","article-title":"Chorea, Pruritus and Polycythemia: Looking for Clues","volume":"6","author":"Rodrigues","year":"2019","journal-title":"Eur. J. Case Rep. Intern. Med."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"1253468","DOI":"10.3389\/fneur.2023.1253468","article-title":"Neuropsychiatric disturbance detecting polycythemia vera myelofibrosis: A case report and literature review","volume":"14","author":"Li","year":"2023","journal-title":"Front. Neurol."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1016\/j.psychres.2011.05.006","article-title":"Suicidal ideation in Huntington disease: The role of comorbidity","volume":"188","author":"Wetzel","year":"2011","journal-title":"Psychiatry Res."}],"container-title":["Medicina"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1648-9144\/60\/1\/18\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T21:39:38Z","timestamp":1760132378000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1648-9144\/60\/1\/18"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,12,21]]},"references-count":36,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,1]]}},"alternative-id":["medicina60010018"],"URL":"https:\/\/doi.org\/10.3390\/medicina60010018","relation":{},"ISSN":["1648-9144"],"issn-type":[{"value":"1648-9144","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,12,21]]}}}