Basal Ganglia Diseases Flashcards
What is the genetic cause of Huntington’s disease?
Autosomal dominant
What are the symptoms of Huntington’s disease?
Change in personality and behaviour
Motor symptoms - involuntary movements when awake
Dementia - 10-15 years after motor symptoms
What is the Huntingtin gene and what is it located?
Chromosome 4
Encodes glutamine
How is the Huntingtin gene affected in Huntington’s disease?
> 34 CAG repeats in exon - more cause younger onset
What changes can be seen in the brain of a Huntington’s disease patient?
Enlarged lateral ventricles - basal ganglia degeneration
Uneven striatum degeneration - indirect neurons before direct - initially loss of movement inhibition - causes involuntary movements - then no movement
What are the symptoms of Parkinson’s disease?
Tremor at rest
Stooped posture
Masked face
What is the cause of Parkinson’s disease?
Sometimes genetic - sometimes idiopathic
What is the main change in the brain in Parkinson’s disease?
Death of substantia nigra neurons
How can electrical stimulation be used to treat Parkinson’s disease symptoms?
Tetanic stimulation - high frequency, low voltage
Inhibits subthalamic nucleus firing