{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T19:55:42Z","timestamp":1770839742135,"version":"3.50.1"},"reference-count":10,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,12,28]],"date-time":"2017-12-28T00:00:00Z","timestamp":1514419200000},"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 Disord Clin Pract"],"published-print":{"date-parts":[[2018,3]]},"abstract":"Abstract<\/jats:title>View Supplementary Video 1<\/jats:ext-link><\/jats:p>View Supplementary Video 2<\/jats:ext-link><\/jats:p>View Supplementary Video 3<\/jats:ext-link><\/jats:p>View Supplementary Video 4<\/jats:ext-link><\/jats:p>View Supplementary Video 5<\/jats:ext-link><\/jats:p><\/jats:sec>Background<\/jats:title>Kufor\u2010Rakeb syndrome (KRS<\/jats:styled-content>) is a rare autosomal recessive neurologic disease with diverse phenotypic features. Herein we report an Iranian KRS<\/jats:styled-content> family with seizure and action myoclonus in addition to other typical manifestations of this syndrome.<\/jats:p><\/jats:sec>Method<\/jats:title>All family members underwent careful neurologic examination. Exome sequencing was performed and ATP<\/jats:styled-content>13A2<\/jats:italic> variation genotyped in all family members.<\/jats:p><\/jats:sec>Results<\/jats:title>Cognitive deficits, hypokinesia, rigidity, spasticity, brisk deep tendon reflexes, upward gaze palsy, tremor, and facial\u2010faucial\u2010finger mini\u2010myoclonus were the common manifestations of all affected siblings. Two cases had seizure and the most severely affected sibling demonstrated severe action myoclonus. Exome sequencing identified a homozygous nonsense mutation c.2455C>T;p.Arg819* in ATP<\/jats:styled-content>13A2<\/jats:italic> gene.<\/jats:p><\/jats:sec>Conclusions<\/jats:title>We reported five KRS<\/jats:styled-content> affected siblings who manifested myoclonus and seizure. The most severely affected one demonstrated action myoclonus, which has not been reported so far.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mdc3.12570","type":"journal-article","created":{"date-parts":[[2017,11,27]],"date-time":"2017-11-27T06:49:43Z","timestamp":1511765383000},"page":"195-199","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Action Myoclonus and Seizure in Kufor\u2010Rakeb Syndrome"],"prefix":"10.1002","volume":"5","author":[{"given":"Mohammad","family":"Rohani","sequence":"first","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":"Department of Neurology Hazrat Rasool Hospital Iran University of Medical 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 Research Institute Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Farzad","family":"Sina","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"}]},{"given":"Elahe","family":"Elahi","sequence":"additional","affiliation":[{"name":"School of Biology College of Science University of Tehran Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alfonso","family":"Fasano","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 Research Institute Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John","family":"Hardy","sequence":"additional","affiliation":[{"name":"UK Dementia Research Institute at UCL and Department of Molecular Neuroscience Institute of Neurology University College London Queen Square, London WC1N 3BG UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jose","family":"Bras","sequence":"additional","affiliation":[{"name":"UK Dementia Research Institute at UCL and Department of Molecular Neuroscience Institute of Neurology University College London Queen Square, London WC1N 3BG UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"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"}]}],"member":"311","published-online":{"date-parts":[[2017,12,28]]},"reference":[{"key":"e_1_2_8_2_1","first-page":"347","article-title":"Pallido\u2010pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor\u2010Rakeb syndrome","volume":"89","author":"Najim al\u2010Din AS","year":"1994","journal-title":"Acta Neurol Scand"},{"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":"10.1038\/ng1884"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neulet.2014.06.023"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-1331.1995.tb00088.x"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2017.02.025"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.22947"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds089"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2010.10.011"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.22996"}],"container-title":["Movement Disorders Clinical Practice"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmdc3.12570","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mdc3.12570","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mdc3.12570","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mdc3.12570","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T13:56:53Z","timestamp":1760968613000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mdc3.12570"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,12,28]]},"references-count":10,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2018,3]]}},"alternative-id":["10.1002\/mdc3.12570"],"URL":"https:\/\/doi.org\/10.1002\/mdc3.12570","archive":["Portico"],"relation":{},"ISSN":["2330-1619","2330-1619"],"issn-type":[{"value":"2330-1619","type":"print"},{"value":"2330-1619","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,12,28]]},"assertion":[{"value":"2017-08-28","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2017-11-07","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2017-12-28","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}