Chorea Huntington – Ätiologie, Klinik und Therapie

  • Anna K. Hödl
  • Raphael M. Bonelli
Originalarbeit
  • 170 Downloads

Zusammenfassung

Chorea Huntington (HD) ist eine autosomaldominat vererbte, neurodegenerative Erkrankung mit einer Inzidenz von 6–12 Betroffenen/100.000 Personen in Österreich. Die Krankheit wurde im Jahre 1841 erstmals beschrieben, benannt wurde sie 1872 nach dem amerikanischen Nervenarzt George Huntington. Die Ursache der Chorea Huntington ist eine Mutation im Huntingtin-Gen auf dem kurzen Arm des Chromosoms 4, bei der es durch das veränderte Huntingtin zu einer vermehrten Apoptose von Nervenzellen, vor allem im Striatums, kommt. Chorea Huntington besteht aus einer Symptomtrias und zeigt neurologische Ausfälle (Chorea, Dystonie, Augenmotilitätsstörungen, Gangstörungen, Störungen der Feinmotorik,…), psychiatrische Symptome (Depressionen, Wahnvorstellungen, Veränderungen der Persönlichkeit bis hin zu Selbstmordversuchen) und eine subkortikale Demenz. Eine kausale Therapie der Chorea Huntington existiert bisher nicht. Eine symptomatische Behandlung der Chorea Huntington ist nur begrenzt möglich, zur Therapie der Bewegungsstörungen und der psychiatrischen Symptome haben sich die neuen atypischen Neuroleptika als hilfreich erwiesen. Das Voranschreiten der Erkrankung ist damit jedoch nicht zu verhindern.

Schlüsselwörter

Chorea Huntington Demenz Genmutation Depression Chorea 

Summary

Huntington's disease (HD) is a relentlessly progressive, incurable autosomal dominant neurodegenerative disorder caused by an expansion of a CAG trinucleotide repeat on chromosome 4 coding for the proteine "huntingtin". This "wrong proteine" leads to selective neuronal loss and gliosis in restricted brain regions, i.e. in the striatum and cortex. Huntington's disease was described first in the year 1841 and was named after the american physician George Huntington in 1872. The disease is characterized clinically by an increasingly severe motor impairment (chorea, dystonia, problems with fine motor tasks, eye movement and statics and gait,…), cognitive decline (subcortical dementia), and psychiatric symptoms (depression, changes of personality, delusions, suicide attemps,…). HD is universally fatal, with a mean survival following onset of 15–20 years. Despite significant advances in understanding the mechanistic pathways mediating progression of HD, effective pharmacotherapy remains elusive.

Keywords

Huntington's disease Dementia Gene mutation Depression Chorea 

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Copyright information

© Springer-Verlag 2005

Authors and Affiliations

  • Anna K. Hödl
    • 1
  • Raphael M. Bonelli
    • 1
  1. 1.Universitätsklinik für PsychiatrieMedizinische Universität GrazGrazAustria

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