Leitlinien „Chorea/Morbus Huntington“ für die deutschsprachigen Länder neu überarbeitet

Carsten Saft; Raphael M. Bonelli; Jean-Marc Burgunder; Matthias Dose; Jörg T. Epplen; Hans H. Jung; Josef Priller; Ralf Reilmann; Sabine Rudnik; Klaus Seppi; G. Bernhard Landwehrmeyer

doi:10.1055/a-0676-8477

Aktuelle Neurologie, Table of Contents

Aktuelle Neurologie 2018; 45(08): 570-585
DOI: 10.1055/a-0676-8477

Leitlinie

Leitlinien „Chorea/Morbus Huntington“ für die deutschsprachigen Länder neu überarbeitet^[*]

Guidelines „Chorea/Huntington Disease“ for the German-Speaking Countries Revised

Carsten Saft (federführend)

¹Huntington-Zentrum NRW, Neurologische Klinik der Ruhr-Universität Bochum, St. Josef-Hospital, Bochum

,

Raphael M. Bonelli

²Forschungsgruppe Neuropsychiatrie, Sigmund-Freud-Universität, Wien

,

Jean-Marc Burgunder

³Schweizerisches Huntington Zentrum und Neurologische Klinik, Universität Bern (Vertreter SNG)

,

Matthias Dose

⁴kbo-Fachberater für Huntington-Krankheit und Autismus-Spektrum-Störungen; kbo-Isar-Amper-Klinikum Taufkirchen/München-Ost (Vertreter DGPPN und für den wissenschaftlichen Beirat der Deutschen Huntington-Hilfe e.V.)

,

Jörg T. Epplen

⁵HZ NRW, Humangenetik, Ruhr-Universität Bochum (Vertreter GfH)

,

Hans H. Jung

⁶Klinik für Neurologie, Universitätsspital Zürich

,

Josef Priller

⁷Abteilung für Neuropsychiatrie, Charité – Universitätsmedizin Berlin und DZNE, Berlin (Vertreter DGPPN)

,

Ralf Reilmann

⁸George-Huntington-Institut GmbH und Klinik für Radiologie, Universität Münster, sowie Sektion für Neurodegeneration und Hertie-Institut für klinische Hirnforschung, Universität Tübingen

,

Sabine Rudnik

⁹Sektion Humangenetik, Medizinische Universität Innsbruck (Vertreterin ÖGH)

,

Klaus Seppi

¹⁰Universitätsklinik für Neurologie, Medizinische Universität Innsbruck (Vertreter der ÖGN)

,

G. Bernhard Landwehrmeyer

¹¹Neurologische Universitätsklinik Ulm

› Author Affiliations

Abstract

Zusammenfassung

Die neu überarbeiteten Leitlinien Chorea/Morbus Huntington geben auf S2k Niveau einen Überblick über den Stand der Forschung zum Erkrankungsverlauf sowie zu neuen Ansätzen der symptomatischen und verlaufsmodifizierenden Therapie bei der Huntington-Krankheit. Im Gegensatz zu vielen anderen Leitlinien bevorzugen die Autoren aus den deutschsprachigen Ländern als Erstlinienbehandlung der Chorea Tiaprid. Aufgrund von Nebenwirkungen, welche unter Tetrabenazin auftreten können – wie etwa Depression oder Akathisie, ist es gängige Praxis, Tetrabenazin erst in zweiter Linie einzusetzen. Die Leitlinien nehmen Stellung zu rechtlichen Fragen der Präimplantationsdiagnostik (PID) und der pränatalen Diagnostik (PD) in Deutschland, Österreich und der Schweiz sowie zu den Unterschieden zwischen dem prädiktiven und dem differenzialdiagnostischen Einsatz der molekulargenetischen Diagnostik. In den Leitlinien wird darüber hinaus sehr ausführlich zu den möglichen Differenzialdiagnosen bei einer Chorea ungeklärter Ätiologie Stellung genommen.

Abstract

The updated and revised guidelines (S2k level) on ‘Chorea and Huntington’s Disease (HD)’ review the present understanding of the natural history of HD including rate of progression and describe new approaches to symptomatic and disease course-modifying therapies in HD. In contrast to other guidelines, the expert opinion in the German speaking countries favors tiapride as a first line treatment of chorea. Because of the side effect profile of tetrabenazine, including depression or akathisia, the authors prefer to use tetrabenazine as second line treatment. The current guidelines address medico-legal aspects of preimplantation genetic diagnosis (PGD) and prenatal testing in Germany, Austria and Switzerland as well as differences between a predictive and a diagnostic setting of molecular genetic diagnosis. In addition, the guidelines comment in detail on the differential diagnoses of a chorea of unknown origin.

Schlüsselwörter

Huntington - chorea - prädiktiv - antidopaminerg

Keywords

Huntingtonʼs disease - chorea - predictive - antidopaminergic

Full Text

References

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Leitlinien „Chorea/Morbus Huntington“ für die deutschsprachigen Länder neu überarbeitet[*]

Leitlinien „Chorea/Morbus Huntington“ für die deutschsprachigen Länder neu überarbeitet^[*]