Basal Ganglia Diseases

Question 1

What is the genetic cause of Huntington’s disease?

Answer 1

Autosomal dominant

Question 2

What are the symptoms of Huntington’s disease?

Answer 2

Change in personality and behaviour
Motor symptoms - involuntary movements when awake
Dementia - 10-15 years after motor symptoms

Question 3

What is the Huntingtin gene and what is it located?

Answer 3

Chromosome 4

Encodes glutamine

Question 4

How is the Huntingtin gene affected in Huntington’s disease?

Answer 4

> 34 CAG repeats in exon - more cause younger onset

Question 5

What changes can be seen in the brain of a Huntington’s disease patient?

Answer 5

Enlarged lateral ventricles - basal ganglia degeneration
Uneven striatum degeneration - indirect neurons before direct - initially loss of movement inhibition - causes involuntary movements - then no movement

Question 6

What are the symptoms of Parkinson’s disease?

Answer 6

Tremor at rest
Stooped posture
Masked face

Question 7

What is the cause of Parkinson’s disease?

Answer 7

Sometimes genetic - sometimes idiopathic

Question 8

What is the main change in the brain in Parkinson’s disease?

Answer 8

Death of substantia nigra neurons

Question 9

How can electrical stimulation be used to treat Parkinson’s disease symptoms?

Answer 9

Tetanic stimulation - high frequency, low voltage

Inhibits subthalamic nucleus firing