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Samenvatting Functioneren bij neurologische aandoeningen $5.36
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Summary

Samenvatting Functioneren bij neurologische aandoeningen

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  • January 22, 2021
  • 4
  • 2020/2021
  • Summary
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Ziekte van huntington
Pathophysiologie
Definitie

Is een neurodegeneratieve aandoening  veroorzaakt autosomaal dominant
genetische overerving op CAG trinucleotide huntington gen




Etiologie en epidemiologie
Epidemiologie

Prevalentie

 5-13.7/100.000

Eerste symptomen

 30-40 jaar

Clinical respresentation… aandoeningen

 Cognitieve
 Motorische
 Psychiatrische

Etiologie

+39 CAG herhalingen  zeker ziekte huntington

36-39 herhalingen  niet 100% zeker

Hoe langer het gen  hoe vroeger de uiting

, Pathogenesis

Cellulair niveau

 Verandering axonale transport
 Verandering
o Transcriptie
o Translatie
 Verandering synaptische functie

Moleculair niveau

 NIET INZOEMEN !!

Macroscopisch brein level

 Medium spiny neuronen striatum  extra gevoelig mutatie huntington gen
 bifasisch patroon
o Verlies medium spiny neuronen  indirecte baan = hyperkinetsich
fenotype
o Verlies directe baan = hypokinetisch fenotype

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