Neuro 2

Question 1

What disorder is characteristic of abdominal pain with neurologic manifestations, port wine urine upon stakding, no photosensitivity, and increased urinary ALA and porphogilinogen (PBG)?

Answer 1

acute intermittent porphyria

Question 2

How do the manifestations of enzyme deficiency differ in the eraly vs. late steps of porphyrin synthesis?

Answer 2

deficiencies in early steps cause neuro abnormalities without photosensitivity, deficiencies in late steps cause photosensitivity

Question 3

What are two agents in Tx of acute attacks of porphyria?

Answer 3

narcotics analgesics and meds that decrease the activity of ALA synthetase: glucose and IV heme preps

Question 4

What is Rathke’s pouch (anterior pituitary) derived from?

Answer 4

surface ectoderm

Question 5

What is the posterior pituitary, pineal gland, and retina derived from

Answer 5

neural tube

Question 6

What event occurs during week 3 of embroygenesis and is initiated by the formation of the primitive streak?

Answer 6

gastrulation

Question 7

What molecules will be deficienct in CSF analysis of narcoleptics?

Answer 7

hypocretin-1 (orexin-A) and hypocretin-2 (orexin-B) produced in lateral hypothalamus

Question 8

What disease is 14-3-3 protein elevated in CSF?

Answer 8

Creutzfeldt-Jacob

Question 9

What molecule will be decreased in CSF in pts with Parkinson?

Answer 9

homovanillic acid

Question 10

What molecule will be decreased in CSF in pts with Alzheimer?

Answer 10

melatonin

Question 11

What is characterized by conscious, brief episodes of sudden bilateral muscle tone loss precipitated by emotion such as laughter or joking or spontaneous, abnormal facial movements without emotional triggers?

Answer 11

Cataplexy

Question 12

What is the difference between schizophrenia and schizophreniform disorder?

Answer 12

schizophreniform is between 1-6 mo. and schizophrenia is >6 mo.

Question 13

Other than chronic repetitive stress, what other conditions is carpal tunnel associated with?

Answer 13

conditions associated with fluid retention (renal failure, hypothyroidism, pregnancy) and DM, acromegaly, and RA

Question 14

What are pts with long history of hemodialysis at risk of?

Answer 14

deposition of B2-microglobulin (dialysis-associated amyloidosis)

Question 15

What is the MOA of Entacapone?

Answer 15

It is a COMT inhibitor that primarily serves to increase the bioavailability of levodopa by inhibiting peripheral methylation and should only be used in combination with levodopa

Question 16

What is the MOA of Selegiline?

Answer 16

It is an inhibitor of MAO-B which decreases central DA degradation.

Question 17

What are two COMT inhibitors?

Answer 17

entacapone and tolacapone

Question 18

What is the difference between entacapone and tolcapone? Which one is more toxic?

Answer 18

Entacapone inhibits peripheral methylation of L-dopa, tolcapone inhibits central and peripheral methylation and is associated wtih hepatotoxicity

Question 19

What can lead to bilateral wedge-shaped bands of necrosis over the cerebral convexity and what do these regions correspond to?

Answer 19

ischemic hypoxic encephalopathy leading ot global cerebral ischemia of watershed infarcts of ACA-MCA and MCA-PCA

Question 20

What is the pathogenesis of paraneoplastic syndromes?

Answer 20

tumor cells produce substances that induce an autoimmune reaction, such as paraneoplastic cerebellar degeneration

Question 21

What is the most common cause of death in tricyclic antidepressant intoxication?

Answer 21

inhibition of fast Na+ channel conduciton, resulting in arrhythmias causing vfib or shock

Question 22

What is the MOA of TCAs like amitryptiline?

Answer 22

inhibit reuptake of NE and 5-HT

Question 23

Where do neurofibromas originate?

Answer 23

neurofibromas are tumors of Schwann cell which are derived from neural crest

Question 24

What is the MOA of a monoamine oxidase inhibitor such as Phenelzine?

Answer 24

it is an antidepressant that works by irreversibly binding and inhibiting MAO A and B, resulting in decreased inactivation of 5-HT, NE, and DA which increases their levels

Question 25

If a pt on phenelzine wants to switch t sertraline, why should you d/c for 2w before starting new med?

Answer 25

to regenerate enzymes back to normal levels for adequate normal NT metabolism

Question 26

What is the MOA of Sertraline?

Answer 26

It is a SSRI that specifically increases serotonin

Question 27

What is the genetic abnormality associated with Fragile X syndrome?

Answer 27

hypermethylation of FMR1 gene on the long arm of the X chromosome d/t increased CGG trinucleotide repeats

Question 28

What is the most common side effect of SSRIs like sertrline?

Answer 28

sexual dysfunction

Question 29

What are common SE of TCAs?

Answer 29

- urinary retention (d/t anticholinergic effects) - cardiac arrhtyhmias (quinidine effect) - seizures in clomipramine and buproprion (d/t antihistaminic, antimuscarinic, and anesthetic) - orthostatic hypotension (antagonism of a-adrenergics) - sedation (antihistaminic effects)

Question 30

What is the pathogenesis responsible for atypical/malignant phenylketonuria?

Answer 30

deficiency of dihydrobiopterin reductase which leads to deficiency of BH4 which is a cofactor for enzymes used for the synthesis of tyrosine, DOPA, serotonin, and NO

Question 31

How does decreasd BH4 lead to increased prolactin

Answer 31

it deceases levels of DA

Question 32

What is the MOA of timolol (and other nonselective BBs) to Tx glaucoma?

Answer 32

it diminishes the secretion of aqueous humor by the ciliary epithelium

Question 33

What is the MOA of acetazolamide for glaucoma?

Answer 33

it is a carbonic anhydrase inhibitor that decreases aqueous humor secretion by the ciliary epithelium

Question 34

How do prostaglandin F2a and cholinomimetics work?

Answer 34

they decrease intraocular pressure by increasing the outflow of the aqueous humor -pilocarpine and carbachol cause miosis by promoting contraction of the sphincter of the iris which widens anterior chamber angle and makes the trabecular meshwork more accessible to outflow of aqueous humor

Question 35

Describe the path of light through the eye

Answer 35

As light enters the eye, the retina generates a signal that is transmitted along the optic nerve bilaterally to the pretectal nucleus, located in the superior colliculus. From there, fibers project to hte ipsilateraly and contralateral Edinger-Westphal nuclei, with the decussating fibers traversing within the posterior commissure. The efferent fibers originate from parasympathetic pregangilonic neurons in the EW nucleus which then travel within CNIII to ciliary ganglion. They synapse on parasympathetic postganglionic neruons which in turn project fibers that innervate teh sphincter of the iris

Question 36

What kind of dementia is associated with social disinhibition, speech abnormalities, and emotional flattening along with pronounced atrophy of the frontotemporal regions?

Answer 36

Pick disease

Question 37

Where do most intracranial schwannomas occur and which cranial nerves are most commonly compressed?

Answer 37

cerebellopontine angle - compress CN V, VII, and VIII

Question 38

What kind of brain tumor is found over the lateral hemispheric fissures and in the parasagittal aspect of the brain convexity with whorled pattern of cell growth and psammoma bodies?

Answer 38

Meningiomas

Question 39

What disease is X-linked recessive, is deficient in a-galactosidase and accumulates ceramide trihexodside and presents with angiokeratomas, cardiac and renal involvment, and painful neuropathy?

Answer 39

Fabray disease

Question 40

What disease is AR, deficient in B-glucocerebrosidase, accumulates glucocerebroside, and presents with macrophages that look crumpled, HSmegaly, pancytopenia, and severe bone and joint pain?

Answer 40

Gaucher disease

Question 41

What disease is AR, deficient in a-L-iduronidase, accumulates dermatan and heparan sulfate, and presents with gargoylism, corneal clouding, hepatosplenimegaly, and developmental delay?

Answer 41

Hurler syndrome

Question 42

What disease is XLR, deficient in iduronate sulfatase, accumulates dermatan adn heparan sulfate, but does not present with corneal clouding?

Answer 42

Hunter syndrome

Question 43

What disease is AR, is deficient in sphingomyelinase, accumulates sphingomyelin, and presents with HSmegaly, cherry-red spot in macula, foam cells, and progressive neurodegeneration?

Answer 43

Niemann-Pick disease

Question 44

What disease is AR, deficient in B-hexosaminidase A, accumulates GM2 ganglioside, and presents with cherry-red spot in macula, progressive neurodegeneration, and no HSmegaly?

Answer 44

Tay Sachs disease

Question 45

What disease is AR, deficient in galactocerebrosidase, accumulates galactosyl-sphingosine and galactocerebroside, and presents with neurodegeneration and optic atrophy?

Answer 45

Krabbe disease

Question 46

What disease is AR, deficient in arylsulfatase A, accumulates cerebroside sulfate, and presents with muscle wasting, dementia, and ataxia?

Answer 46

Metachromatic leukodystrophy