Potpourri

Question 1

What CNS neuropeptide is altered in narcolepsy? Is it increased or decreased?

Answer 1

Hypocretin (orexin) is decreased in patients with narcolepsy.

Question 2

What stages of sleep are increased in the two nights following prolonged sleep deprivation?

Answer 2

The first night consists of increased N3 (SWS) sleep. The second night may have increased REM, especially in younger patients.

Question 3

What is monoadenylate deaminase deficiency?

Answer 3

Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterized by exercise-induced muscle pain, cramps and/or early fatigue. Can be diagnosed by a low ammonia response to the forearm ischemia test.

Question 4

What causes the increased risk of stroke for patients with Fabry disease?

Answer 4

Fabry disease is an X-linked storage disorder with features of proteinuria, renal failure, painful small fiber stocking-glove neuropathy, skin angiokeratomas, and corneal dystrophy. Increased stroke risk is caused by accumulation of fatty deposits in blood vessels, increasing risk of small vessel ischemic stroke. There may also be contribution in some patients from hypertension due to kidney disease.

Question 5

Name the gene, location, and type of mutation involved in Freidrich’s ataxia.

Answer 5

AR trinucleotide GAA repeat on the FXN gene located on 9q21.11

Question 6

A patient with REM sleep behavior disorder is most likely to develop what condition?

Answer 6

Parkinson disease

Question 7

What is the mechanism of action of triptans?

Answer 7

5HT1B and 5HT1D agonist