A 22-Year-Old Man Comes to the Physician Because of a Fall

A 22-year-old man comes to the physician because of a fall associated with a 6-month history of increasing difficulty walking. Over the last year, his friends have also noticed his speech becoming slower. During this period, he also gave up his hobby of playing video games because he has become clumsy with his hands. His father died of esophageal varices at the age of 40 years. The patient does not smoke or drink alcohol. He takes no medications. Which of the following diagnostic studies would be the most helpful for confirming the diagnosis in this patient?

A) Anti-smooth muscle antibodies
B) Genetic testing for triplet repeat expansions
C) MRI of the brain
D) Serum alpha-1 antitrypsin level
E) Serum ferritin and transferrin saturation
F) Slit lamp examination

Correct Answer:

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