4. Huntington's Disease Flashcards
who first described Huntingtons disease
George Huntington
name 4 symptoms of HD
involuntary bowing, grimacing or twisting
facial or vocal tics
difficulty with speech or swallowing
psychiatric problems of hallucination or delusions
what happens to the lateral ventricles in HD
they are enlarged and filled with CSF
by what % of brain weight is lost in HD
<30% of brain weight is lost
where is severe loss of neurons in HD
caudate-putamen
name another histopathological feature of HD
gliosis
describe how motor movement is altered at the onset of HD
glutamate excitotoxicity drives the death of GABAergic in the caudate putamen - this lack of inhibition hyper activates the thalamus leading to increased motor movement at the onset of HD
what type of neurotransmission is also altered in HD and at what stage
at the onset - dopamine increases
at later stages - dopamine decreases
what happens if you administer L-dopa to a HD patient
symptoms are aggravated (because there is already an excess of dopamine)
what can alleviate the symptoms of HD
dopamine antagonists
what type of genetic disease is HD
autosomal DOMINANT
from which parent is the disease severity increased if you inherit their dominant allele
inheritance from the father is likely to result in more severe disease
what is the prevalence of HD
5-10/100,000 of the UK
is there a sex bias in HD
no, males and females are equally affected
what is the typical age of onset for HD
40-50 years old
