Clinical Perspectives - Basal Ganglia Disorders

Question 1

Parkinson’s disease is associated with the buildup of what protein in the brain?

Answer 1

Lewy Bodies - composed of alpha-synuclein protein

Question 2

Wilson’s disease presents with neurologic and psychiatric symptoms, which sometimes are mistaken for substance abuse or mental illness. What symptom is unique to Wilson’s disease and can help with diagnosis?

Answer 2

Kayser-Fleischer rings in the corneas

Question 3

In what manner is Huntington’s disease passed genetically?

Answer 3

Dominant trait due to a defective gene on chromosome 4 that is usually passed paternally (sperm are prone to more genetic mutations than eggs)

Question 4

An attending is describing a patient they saw who has a movement disorder. The attending describes a “pill-rolling” tremor, “cogwheel” rigidity, and micrographia as symptoms. What disorder best matches with these symptoms?

Answer 4

Parkinson’s Disease (TRAPSS - Tremor, Rigidity, Akinesia, Postural Instability, Shuffling Gait, Small Handwriting)

Question 5

How does the symptom presentation of males and females differ in Tourette’s disease?

Answer 5

Males are more likely to present with tics. Females are more likely to present with obsessive-compulsive symptoms

Question 6

The striatum is made up of what two structures?

Answer 6

Caudate nucleus, putamen

Question 7

What is a common cause of Sydenham Chorea?

Answer 7

Autoimmune disorders due to rheumatic fever or streptococcus infection

Question 8

True/False. The presence of any tic is indicative of Tourette’s disease.

Answer 8

False. A person may have a tic without having Tourette’s disease.

Question 9

A patient feels the need to repeatedly clear his throat. What type of tic is this?

Answer 9

Simple vocal tic

Question 10

Mutations of the ATP7B gene are associated with what disorder?

Answer 10

Wilson’s Disease - copper accumulation due to decreased excretion

Question 11

What movements are most associated with Sydenham Chorea?

Answer 11

Tongue darting and milkmaids sign

Question 12

How do the symptoms of Parkinson’s and Huntington’s diseases differ?

Answer 12

Parkinson’s involves the gradual loss of the ability to initiate movement. Huntington’s, on the other hand, is characterized by an inability to prevent the body from moving involuntarily.

Question 13

What is the most commonly used drug for the treatment of Parkinson’s disease?

Answer 13

Carbidopa-levodopa

Question 14

Neurons of the substantia nigra are lost due to the pathophysiology of what disease?

Answer 14

Parkinson’s disease

Question 15

This disease most commonly affects young girls more than boys and presents after infection with rheumatic fever or streptococcus.

Answer 15

Sydenham Chorea

Question 16

What medication is used to treat Huntington’s disease?

Answer 16

There is no drug to cure Huntington’s or stop its progression. Antidepressants, mood stabilizers, and medicines to reduce movement may be used to manage symptoms

Question 17

Sudden, repetitive, rapid, and unwanted movements or vocal sounds are associated with what basal ganglia disorder?

Answer 17

Tourette’s Disease

Question 18

What is the inhibitory neurotransmitter?

Answer 18

GABA

Question 19

What types of drugs are most commonly used to suppress tics associated with Tourette’s disease?

Answer 19

Medications that block dopamine - other drugs, such as alpha-adrenergic agonists, stimulants, and antidepressants are also used

Question 20

The loss of what neurotransmitters specifically cause Huntington’s chorea?

Answer 20

Loss of ACh and GABA

Question 21

The caudate and putamen atrophy due to Huntington’s disease. What other pathological findings are present in the brain?

Answer 21

Enlargement of the ventricles

Question 22

What gene is mutated in Huntington’s disease?

Answer 22

Huntingtin gene - CAG repeat expansion on chromosome 4

Question 23

Wilson’s disease is associated with the accumulation of what compound in the liver and nervous system?

Answer 23

Copper - due to decreased movement of copper into bile for excretion

Question 24

What is the excitatory neurotransmitter?

Answer 24

Glutamate

Question 25

What is the primary neurotransmitter functioning in the basal ganglia?

Answer 25

GABA - this is compared to the cortex, where glutamate is primarily present

Question 26

This movement disorder is unique in that it has both hypo- and hyper-kinetic symptoms.

Answer 26

Parkinson’s Disease

Question 27

What is the effect of dopamine? (excitatory/inhibitory)

Answer 27

Both excitatory and inhibitory, depending upon the receptor

Question 28

What comorbidities are associated with Tourette’s disease?

Answer 28

ADHD, OCD, anxiety, learning disabilities, behavioral issues, sleep issues, social deficits, sensory processing issues

Question 29

What treatment is used for Sydenham Chorea?

Answer 29

There is no treatment. Symptoms are generally self-resolving within three to six weeks

Question 30

What brain structure has one of the highest concentrations of acetylcholine?

Answer 30

Striatum (caudate, putamen)

Question 31

True/False. Constipation, orthostatic hypotension, smell dysfunction, and sexual dysfunction are complications of Parkinson’s disease.

Answer 31

True - Fatigue, pain, bladder problems, sleep disturbances, and problems with eating/swallowing are other complications