Summary
Samenvatting Functioneren bij neurologische aandoeningen
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Ziekte van huntingtonPathophysiologie
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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