Neurology: Step 2 Flashcards
What are the symptoms associated with Parkinson Disease?
Tetrad: Resting tremor, bradykinesia, rigidity, and postural instability (asymmetrical)
Other: masked facies, memory loss, and micrographia
What are the possible etiologies of Parkinsonism (bradykinesia and rigidity)?
Vascular (multiple infarcts), NPH, Metabolic, Toxins, Infection, Drugs (Reserpine/tetrabenazine, metoclopramide/prochloperazine, atypical antipsychotics)
If a suspected Parkinson patient fails to respond to Levodopa, what diagnoses are more likely?
- Multiple system atrophy: Often has autonomic or cerebellar component; MRI for diagnosis
- Progressive supranuclear palsy: Inability to look down (can’t go down stairs)
- Corticobasal ganglionic degeneration: Often has component of limb apraxia or dystonia
What are the treatment options for Parkinson disease?
- Carbidopa/levodopa (DA mimetic)
- Ropinirole/Pramipexole/Bromocriptine (DA agonists)
- Selegiline (MAO-B inhibitor)
- Entacapone/tolcapone (COMT inhibitors)
- Amantadine (NMDA antagonist)
What are the non-pharmacologic treatment options for Parkinson disease?
- DBS (deep brain stimulation)
2. Surgical pallidotomy
What is the pathophysiology of Huntington Disease?
- A hyperkinetic, autosomal dominant trinucleotide repeat (CAG) repeat disease involving the HD gene on chromosome 4 and showing “anticipation”
What are the symptoms associated with Huntington Disease?
Triad: Chorea (sudden onset of purposeless, involuntary, dance-like movements), Altered behavior, and Dementia (antisocial, irritability, clumsiness, etc)
What is a reasonable differential diagnosis for choreiform movements?
- Hereditary (HD, Spinocerebellar ataxia, pseudohypoparathyroidism)
- Autoimmune (vasculitus, SLE)
- Neoplasm (tumor, paraneoplastic syndrome)
- Metabolic (hyperthyroidism, etc)
- Toxins/drugs
What is the gold standard for diagnosis of Huntington Disease?
- DNA analysis for number of CAG repeats (>29 is abnormal)
2. CT/MRI shows caudate atrophy and ex vacuo hydrocephalus (Not Gold Standard)
What are the treatment options available for patients with Huntington Disease?
- Chorea with Reserpine/tetrabenazine
- Psychosis with atypical antipsychotics
- Depression/anxiety with SSRI
- Provide genetic counseling
All symptomatic relief!
What is the pathophysiology of Spinocerebellar ataxia? Diagnostic evaluation? Treatment?
- AD inheritance of cerebellar atrophy that leads to progressive ataxia/gait disturbances as well as various other neurological features
- Diagnosis is made by DNA analysis
- Treatment is supportive
What is the pathophysiology of primary dystonia? Diagnostic evaluation? Treatment?
- AD deletion of torsin A gene that leads to sustained muscle contractions, twisting movements, and abnormal postures; The disorder is aggravated by DA antagonists (Like PD)
- Clinical (i.e. no signs of secondary etiology)
- DBS of GPi ( best) or trihexyphenidyl
What is the pathophysiology of Parkinson Disease? When does Parkinson Disease classically present?
- Hypo kinetic disorder caused by loss of dopaminergic neurons in the Substantia Nigra; It is characterized by the presence of eosinophilic cytoplasmic inclusion bodies (Lewy)
- The 5th and 6th decades of life
What is the pathophysiology of Essential tremor? Diagnostic evaluation? Treatment?
- AD inheritance of BILATERAL hand tremor with movement and fine motor skill tasks that spreads to the legs, larynx, and HEAD
- Rule out other etiologies; PET scan shows increased thalamic uptake
- Primidone and Beta-blockers for symptom relief OR Botox injections OR DBS
What is a reasonable DDx for tremor?
- Physiologic
- Essential
- Parkinson Disease
- Hyperthyroidism
- Multiple sclerosis
- Head trauma (cerebellum or red nucleus)