{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,4,2]],"date-time":"2022-04-02T14:32:12Z","timestamp":1648909932853},"reference-count":30,"publisher":"Georg Thieme Verlag KG","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Fortschr Neurol Psychiatr"],"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:title>Zusammenfassung<\/jats:title><jats:p>Die Huntington-Erkrankung (HD) ist eine autosomal-dominante neurodegenerative Erkrankung, die vornehmlich zwischen dem 30. und 50. Lebensjahr auftritt. Verursacht wird sie durch eine Genmutation auf dem Chromosom 4, welche zu einer Tripletexpansion (CAG) f\u00fchrt. Weniger als 10% der Betroffenen erkranken vor dem 20. Lebensjahr. Die beim Erwachsenen typischen choreatiformen Bewegungsmuster tauchen beim Jugendlichen erst im sp\u00e4teren Verlauf auf, k\u00f6nnen aber auch ganz fehlen. Etwa ein Drittel der Jugendlichen entwickelt eine Epilepsie.<\/jats:p><jats:p>Wir pr\u00e4sentieren sechs F\u00e4lle kindlicher\/juveniler HD und beschreiben vergleichend zur adulten HD Erstsymptome, genetische Befunde und weitere Besonderheiten.<\/jats:p><jats:p>Die klinische Pr\u00e4sentation und auch der Erkrankungsverlauf der jugendlichen HD-Patienten unterscheiden sich mitunter deutlich von der adulten Form. Es imponieren initial vor allem Teilleistungsst\u00f6rungen bei den Kindern sowie psychiatrische Symptome wie Depression und Aufmerksamkeitsst\u00f6rungen bei den Jugendlichen.<\/jats:p><jats:p>Aufgrund der niedrigen Pr\u00e4valenz juveniler HD sowie der variablen klinischen Symptomatik ist eine Diagnosestellung im Kindes- und Jugendalter schwierig und gelingt oftmals erst mit einer zeitlichen Latenz. Die fr\u00fche Diagnosestellung kann allerdings wichtig sein, insbesondere, um soziale und schulische Probleme zu entsch\u00e4rfen.<\/jats:p>","DOI":"10.1055\/a-1082-6605","type":"journal-article","created":{"date-parts":[[2020,5,5]],"date-time":"2020-05-05T22:45:47Z","timestamp":1588718747000},"page":"661-667","source":"Crossref","is-referenced-by-count":0,"title":["Zur Huntington-Erkrankung im Kindes- und Jugendalter \u2013 Erkrankung, klinische Pr\u00e4sentation und Probleme der Diagnostik"],"prefix":"10.1055","volume":"88","author":[{"given":"Charlotte","family":"Thiels","sequence":"additional","affiliation":[{"name":"Neurop\u00e4diatrie und Sozialp\u00e4diatrie, Universit\u00e4tsklinik f\u00fcr Kinder- und Jugendmedizin der Ruhr-Universit\u00e4t Bochum"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Stahl","sequence":"additional","affiliation":[{"name":"Universit\u00e4tsklinik f\u00fcr Kinder- und Jugendmedizin der Ruhr-Universit\u00e4t Bochum"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carsten","family":"Saft","sequence":"additional","affiliation":[{"name":"Abteilung f\u00fcr Neurologie der Ruhr-Universit\u00e4t Bochum, Huntington-Zentrum NRW, St. Josef-Hospital"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Georg","family":"Juckel","sequence":"additional","affiliation":[{"name":"LWL Klinik f\u00fcr Psychiatrie, Ruhr-Universit\u00e4t Bochum"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"L\u00fccke","sequence":"additional","affiliation":[{"name":"Neurop\u00e4diatrie und Sozialp\u00e4diatrie, Universit\u00e4tsklinik f\u00fcr Kinder- und Jugendmedizin der Ruhr-Universit\u00e4t Bochum"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2020,5,5]]},"reference":[{"key":"ref1","first-page":"15","volume-title":"Huntington\u2019s disease \u2013 Neuropathology","author":"JPG Vonsattel","year":"2011"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"1165","DOI":"10.1016\/S1474-4422(14)70260-1","article-title":"What is the course of Huntington\u2019s disease?","volume":"13","author":"C Saft","year":"2014","journal-title":"Lancet Neurol"},{"key":"ref3","first-page":"1019","volume-title":"Chorea","author":"M Schwarz","year":"2011"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"1048","DOI":"10.1212\/WNL.49.4.1048","article-title":"US Huntington Disease Genetic Testing Group. 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