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2009 | OriginalPaper | Hoofdstuk

23 Ziekte van Huntington

Auteur: H.P.H. Kremer

Gepubliceerd in: Handboek dementie

Uitgeverij: Bohn Stafleu van Loghum

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Kernpunten

  • De ziekte van Huntington is een autosomaal dominante erfelijke hersenaandoening met zogenaamde complete penetrantie.
  • De aandoening wordt veroorzaakt door een geëxpandeerde trinucleotide repeat (CAG-repeat) in het huntingtine-gen op de korte arm van chromosoom 4.
  • De klinische verschijnselen zijn te rangschikken als stemmings- en gedragsproblemen, motorische (extrapiramidale) problemen en cognitieve achteruitgang.
  • De diagnose kan met 100% zekerheid worden vastgesteld of worden uitgesloten met behulp van DNA-Diagnostiek.
  • Er bestaat geen behandeling die de progressieve neurodegeneratie kan stoppen; wel zijn er medicamenteuze behandelmogelijkheden voor symptomen zoals stemmingsstoornissen, gedragsproblemen en onwillekeurige bewegingen.

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Literatuur
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Metagegevens
Titel
23 Ziekte van Huntington
Auteur
H.P.H. Kremer
Copyright
2009
Uitgeverij
Bohn Stafleu van Loghum
DOI
https://doi.org/10.1007/978-90-313-8061-9_23