Other Basal Nuclei Disorders Flashcards
Huntington’s Disease aka?
Huntington’s Chorea
What is Huntington’s disease?
an inherited neurodegenerative disease
What is wrong with the gene called Huntingtin?
there is an autosomal dominant mutation in either of the individual’s two copies
Children of Huntington’s disease pts have ___ risk of developing the disease also?
50%
What is the pathology of Huntington’s Disease?
gross atrophy of the striatum (caudate and putamen)
What is Huntington’s characterized by?
Triad of manifestations
- Motor changes (choreoathetosis)
- Cognitive decline leading to dementia
- psychiatric disorders inclusing paranoia and psychosis behaviors
What is the typical age of onset for Huntington’s?
40-50 and most people progress to a vegetative state within 10-15 years and die
With Huntington’s there is an overall loss of GABAergic neurons and a reduction of what in the circuitry?
reduction of inhibition in the basal ganglia circuitry
in Huntington’s what happens to the subthalamic nuclei?
there is a loss of excitation of the subthalamic nucleus of the indirect pathway to the basal ganglia output nuclei
What approaches have been done to try and help Huntington’s?
- dopamine ANTagonists
- fetal transplantation (unsuccessful)
- deep brain stimulation
- surgical ablation of the GPi
What is hemiballismus?
wild, unpatterned, flinging movements of an entire extremity
what is hemiballismus caused by?
discrete lesion of the subthalamic nucleus contralateral to symptoms
pathology of hemiballismus?
reduces activity of the indirect pathway and thus reduces the inhibition of movement
what does hemiballismus most commonly result from?
vascular disorder of penetrating branch of posterior cerebral artery (PCA)
