{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T12:27:06Z","timestamp":1791116826659,"version":"4.1.0"},"reference-count":24,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2010,8,3]],"date-time":"2010-08-03T00:00:00Z","timestamp":1280793600000},"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":[[2010,9,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report the clinical features of the original Chilean family with Kufor\u2010Rakeb syndrome (KRS) that led to the discovery of the <jats:italic>ATP13A2<\/jats:italic> gene at the PARK9 locus. KRS is a rare juvenile\u2010onset autosomal recessive disease characterized by progressive Parkinsonism, pyramidal signs, and cognitive decline in addition to vertical gaze palsy and facial\u2010faucial\u2010finger minimyoclonus. Neurological and neuropsychological examination during a 10\u2010year period, videotaping, neuroimaging, and measurement of DNA methylation of the <jats:italic>ATP13A2<\/jats:italic> promoter region were performed. The youngest 5 of 17 children of nonconsanguineous parents, carrying compound\u2010heterozygous <jats:italic>ATP13A2<\/jats:italic> mutations, had normal development until ages \u223c10 to 12 years, when school performance deteriorated and slowness, rigidity, and frequent falls developed. Examination revealed bradykinesia, subtle postural\/action tremor, cogwheel rigidity, spasticity, upward gaze palsy, smooth pursuit with saccadic intrusions, and dementia. Additional signs included facial\u2010faucial\u2010finger minimyoclonus, absent postural reflexes, visual\/auditory hallucinations, and insomnia. Levodopa response could not be fully judged in this family. T2* magnetic resonance imaging sequences revealed marked diffuse hypointensity of the caudate (head and body) and lenticular nucleus bilaterally. Disease progression was slow including epilepsy, cachexia, and anarthria. Four affected members died after 28.5 \u00b1 5.5 (mean \u00b1 SD) years of disease. Two heterozygous carriers, the mother and eldest sibling, showed jerky perioral muscle contractions and clumsiness of hand movements. There was no significant correlation between DNA methylation of the <jats:italic>ATP13A2<\/jats:italic> promoter region and disease progression. The marked caudate and lenticular nucleus T2*\u2010hypointensity suggests that KRS might belong to the family of neurodegenerative diseases associated with brain iron accumulation. \u00a9 2010 Movement Disorder Society.<\/jats:p>","DOI":"10.1002\/mds.22996","type":"journal-article","created":{"date-parts":[[2010,8,3]],"date-time":"2010-08-03T09:44:22Z","timestamp":1280828662000},"page":"1929-1937","source":"Crossref","is-referenced-by-count":107,"title":["Clinical spectrum of Kufor\u2010Rakeb syndrome in the Chilean kindred with <i>ATP13A2<\/i> mutations"],"prefix":"10.1002","volume":"25","author":[{"given":"Maria 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