File talk:Autosomal dominant inheritance.jpg
From Embryology
Huntington’s Disease
(HD, Huntington Chorea)
- George Huntington in 1872 wrote a paper called "On Chorea". Latin, chorea = chorus or a group of dances
- polyglutamine trinucleotide repeat expansion disease
- chromosome 4p16.3
- protein called huntingtin
- Cytosine Adenine Guanine (CAG) repeats in the first exon (1993 first genetic test)
- up to 28 repeats - normal range
- 29-34 repeats - individual will not develop HD, next generation at risk
- 40 or more repeats - individual will develop HD
- repeat enlargement occurs during spermatogenesis
- reduced brain mass
- basal ganglia atrophy (caudate nucleus, putamen, internal and external regions of the globus pallidus (GPi and GPe)
- loss of striatal neurons within the caudate nucleus and putamen
- atrophy of frontal and parietal lobe
- basal ganglia atrophy (caudate nucleus, putamen, internal and external regions of the globus pallidus (GPi and GPe)
- Links: OMIM 143100
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