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Der Nervenarzt
Erschienen in: Der Nervenarzt 6/2015

01.06.2015 | Morbus Huntington | Übersichten

Morbus Huntington

verfasst von: Prof. Dr. J.D. Rollnik

Erschienen in: Der Nervenarzt | Ausgabe 6/2015

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Zusammenfassung

Hintergrund

Die Huntington-Erkrankung (Huntington’s disease, HD) ist eine progrediente neurodegenerative Erkrankung, die mit motorischen (Hyperkinesen), psychiatrischen (Depression, Psychose) und kognitiven Symptomen (frontale Demenz) einhergehen kann. In Deutschland sind etwa 8000 Patienten von ihr betroffen.

Fragestellung

Die vorliegende Arbeit präsentiert eine Literaturübersicht zu Symptomatik, Epidemiologie, Genetik, Differenzialdiagnostik, Pathophysiologie, symptomatischer Behandlung und aktuellen therapeutischen Ansätzen, die sich an Kliniker richtet.

Material und Methodik

Über Medline aufrufbare tierexperimentelle und klinische Studien sowie Reviews zu HD wurden ausgewertet.

Ergebnisse

Diagnostische Sicherheit kann nur durch eine genetische Testung erreicht werden. Die Zahl der CAG-Wiederholungen im mutierten Huntingtin-Gen hat entscheidenden Einfluss auf Manifestationsalter, Krankheitsverlauf und Lebenserwartung. Die durch das mutante Huntingtin-Eiweiß (mHTT) ausgelöste Pathophysiologie ist komplex und führt letztlich zum Neuronenuntergang, v. a. im Corpus striatum. In klinischen Studien wurden Antioxidanzien (z. B. Koenzym Q10), Selisistat, PBT2, Cysteamin, NMDA-Rezeptor-Antagonisten und Tyrosinkinase-B-Rezeptor-Agonisten bei HD geprüft.

Schlussfolgerungen

Eine krankheitsmodifizierende Therapie steht bei HD noch nicht zur Verfügung, aber durch „gene silencing“, z. B. mittels RNA-Interferenz, könnte in absehbarer Zeit eine wirkungsvolle Behandlungsoption verfügbar sein.
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Metadaten
Titel
Morbus Huntington
verfasst von
Prof. Dr. J.D. Rollnik
Publikationsdatum
01.06.2015
Verlag
Springer Berlin Heidelberg
Erschienen in
Der Nervenarzt / Ausgabe 6/2015
Print ISSN: 0028-2804
Elektronische ISSN: 1433-0407
DOI
https://doi.org/10.1007/s00115-015-4306-9

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