Clinical Perspectives - Basal Ganglia Disorders Flashcards
Parkinson’s disease is associated with the buildup of what protein in the brain?
Lewy Bodies - composed of alpha-synuclein protein
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?
Kayser-Fleischer rings in the corneas
In what manner is Huntington’s disease passed genetically?
Dominant trait due to a defective gene on chromosome 4 that is usually passed paternally (sperm are prone to more genetic mutations than eggs)
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?
Parkinson’s Disease (TRAPSS - Tremor, Rigidity, Akinesia, Postural Instability, Shuffling Gait, Small Handwriting)
How does the symptom presentation of males and females differ in Tourette’s disease?
Males are more likely to present with tics. Females are more likely to present with obsessive-compulsive symptoms
The striatum is made up of what two structures?
Caudate nucleus, putamen
What is a common cause of Sydenham Chorea?
Autoimmune disorders due to rheumatic fever or streptococcus infection
True/False. The presence of any tic is indicative of Tourette’s disease.
False. A person may have a tic without having Tourette’s disease.
A patient feels the need to repeatedly clear his throat. What type of tic is this?
Simple vocal tic
Mutations of the ATP7B gene are associated with what disorder?
Wilson’s Disease - copper accumulation due to decreased excretion
What movements are most associated with Sydenham Chorea?
Tongue darting and milkmaids sign
How do the symptoms of Parkinson’s and Huntington’s diseases differ?
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.
What is the most commonly used drug for the treatment of Parkinson’s disease?
Carbidopa-levodopa
Neurons of the substantia nigra are lost due to the pathophysiology of what disease?
Parkinson’s disease
This disease most commonly affects young girls more than boys and presents after infection with rheumatic fever or streptococcus.
Sydenham Chorea
What medication is used to treat Huntington’s disease?
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
Sudden, repetitive, rapid, and unwanted movements or vocal sounds are associated with what basal ganglia disorder?
Tourette’s Disease
What is the inhibitory neurotransmitter?
GABA
What types of drugs are most commonly used to suppress tics associated with Tourette’s disease?
Medications that block dopamine - other drugs, such as alpha-adrenergic agonists, stimulants, and antidepressants are also used
The loss of what neurotransmitters specifically cause Huntington’s chorea?
Loss of ACh and GABA
The caudate and putamen atrophy due to Huntington’s disease. What other pathological findings are present in the brain?
Enlargement of the ventricles
What gene is mutated in Huntington’s disease?
Huntingtin gene - CAG repeat expansion on chromosome 4
Wilson’s disease is associated with the accumulation of what compound in the liver and nervous system?
Copper - due to decreased movement of copper into bile for excretion
What is the excitatory neurotransmitter?
Glutamate
What is the primary neurotransmitter functioning in the basal ganglia?
GABA - this is compared to the cortex, where glutamate is primarily present
This movement disorder is unique in that it has both hypo- and hyper-kinetic symptoms.
Parkinson’s Disease
What is the effect of dopamine? (excitatory/inhibitory)
Both excitatory and inhibitory, depending upon the receptor
What comorbidities are associated with Tourette’s disease?
ADHD, OCD, anxiety, learning disabilities, behavioral issues, sleep issues, social deficits, sensory processing issues
What treatment is used for Sydenham Chorea?
There is no treatment. Symptoms are generally self-resolving within three to six weeks
What brain structure has one of the highest concentrations of acetylcholine?
Striatum (caudate, putamen)
True/False. Constipation, orthostatic hypotension, smell dysfunction, and sexual dysfunction are complications of Parkinson’s disease.
True - Fatigue, pain, bladder problems, sleep disturbances, and problems with eating/swallowing are other complications
