Neurologists Exam Neurodegenerative & Movement Disorders Flashcards

Which genetic mutation is most commonly associated with familial ALS in the United States?

Answer: C9orf72 hexanucleotide repeat expansion

C9orf72 hexanucleotide repeat expansions account for approximately 40% of familial ALS and 10% of sporadic ALS cases in the US.

Riluzole's mechanism of action in ALS involves:

Answer: Inhibition of glutamate release and blockade of sodium channels

Riluzole reduces glutamate-mediated excitotoxicity by inhibiting presynaptic glutamate release and blocking voltage-gated sodium channels.

Wilson's disease presents with neurological symptoms and hepatic disease due to accumulation of which substance?

Answer: Copper

Wilson's disease is an autosomal recessive disorder of ATP7B causing hepatic copper accumulation with overflow into brain, cornea (Kayser-Fleischer rings), and other organs.

Which dopamine agonist side effect is particularly important to screen for in Parkinson's disease patients?

Answer: Impulse control disorders (gambling, hypersexuality)

Dopamine agonists (pramipexole, ropinirole) can cause impulse control disorders including pathological gambling, hypersexuality, and binge eating.

The 'sunflower cataract' is a characteristic finding in which metabolic movement disorder?

Answer: Wilson's disease

The sunflower cataract, caused by copper deposition in the lens, is a distinctive but less common ophthalmological sign of Wilson's disease.

Deep brain stimulation (DBS) of which target is most effective for tremor-predominant Parkinson's disease and essential tremor?

Answer: Ventral intermediate nucleus (VIM) of the thalamus

VIM thalamic DBS provides the most robust and immediate tremor suppression for both essential tremor and tremor-predominant PD.