Neurologists Exam Neurologists Exam Neurodegenerative & Movement Disorders 3

Question 1

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

Accepted Answer

C9orf72 hexanucleotide repeat expansion

Answer

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

Question 2

Riluzole's mechanism of action in ALS involves:

Accepted Answer

Inhibition of glutamate release and blockade of sodium channels

Answer

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

Question 3

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

Accepted Answer

Copper

Answer

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.

Question 4

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

Accepted Answer

Impulse control disorders (gambling, hypersexuality)

Answer

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

Question 5

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

Accepted Answer

Wilson's disease

Answer

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

Neurologists Exam Practice Test

Neurologists Exam Practice Test

Neurologists Exam Neurologists Exam Neurodegenerative & Movement Disorders 3