Neurologic Disorders I

Question 1

Huntington’s

Answer 1

• HTN; AD
• Caused by 36-40+ trinucleotide repeats (polyglutamine: CAG); (Intermediate: 27-35; reduced penetrance 36-39)
• 3-7/100,000 of Euro descent
• Fatal; mean age of onset is 35-44 Chorea, executive functioning issues, mood changes

Question 2

tuberous sclerosis

Answer 2

• TSC1, TSC2; AD
• Nonmalignant tumors in brain and kidney
• hypopigmentation patches “tubers” in brain: seizures

Question 3

lissencephaly

Answer 3

LIS1, DCX “smooth brain”