A 32 yo automobile salesman was referred to you by his car dealership because they suspected that he had been drinking. He had started to slur his speech slightly and to become very "jumpy" over the past 3 months. The patient denied drinking and agreed to come to your office for an independent medical examination.

He denied any changes in his health or in his behavior. He denied anything more than social drinking. He admitted that he had become suspicious that the owner of the dealership was "out to get" him and had been doing things to make his job more difficult. He found that the new taxes and lease documents were too difficult for him to give customers prices, but denied that he has having any problems with calculations. His family history was important in that his father had left the family when the patient was a child. He had heard that his father "ran around with other woman" and then became "insane". His father had died in a state institution, but he was not sure which one.

On examination, he could not sit still. He was slightly disoriented giving the county as "Queens" instead of Suffolk. He was unable to sit still. He kept crossing and uncrossing his legs, reaching into his pockets for various items like coins and pens. His speech was intermittently slurred. His physical and neurological examination were entirely normal.

Questions:

1. Name the three types of involuntary movements besides tremor. Which type does this patient have? Draw the basal ganglia and its connections. Describe the abnormality in these connections thought to produce the patient's involuntary movement.


2. What tests would you do to establish the diagnosis?


3. Name the genetic abnormality underlying this disease? What family of genetic diseases does it belong to?


4. What treatments can be prescribed for this patint?