{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T18:37:39Z","timestamp":1790966259213,"version":"4.1.0"},"reference-count":39,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2005,6,28]],"date-time":"2005-06-28T00:00:00Z","timestamp":1119916800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2005,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Kufor Rakeb disease is an autosomal recessive disorder characterized by subacute, juvenile\u2010onset, levodopa\u2010responsive parkinsonism, pyramidal signs, dementia, and a supranuclear gaze palsy. It was originally described more than a decade ago, and linkage analysis identified a locus on chromosome 1p36 that was previously assigned <jats:italic>PARK9<\/jats:italic>. We have further characterized the clinical picture and specifically re\u2010assessed the response to levodopa in the original family, in the northern highlands of Jordan. In the 4 surviving patients, there has been a narrowing of the therapeutic window for levodopa with the emergence of peak\u2010dose dyskinesias with increased spasticity and cognitive decline. Several new features were identified, including facial\u2010faucial\u2010finger mini\u2010myoclonus, visual hallucinations, and oculogyric dystonic spasms. \u00a9 2005 Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.20511","type":"journal-article","created":{"date-parts":[[2005,6,28]],"date-time":"2005-06-28T17:17:49Z","timestamp":1119979069000},"page":"1264-1271","source":"Crossref","is-referenced-by-count":173,"title":["Kufor Rakeb Disease: Autosomal recessive, levodopa\u2010responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia"],"prefix":"10.1002","volume":"20","author":[{"given":"David R.","family":"Williams","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali","family":"Hadeed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amir S. 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