1/9

Question 1

Name 5 inherited disorders caused by deficient DNA repair enzymes

Answer 1

1Ataxia-telangiectasia (DNA hypersensitivity to ionizing radiation)
2Xeroderma pigmentosum (DNA hypersensitivity to UV radiation increased risk of skin cancer)
3Falcon anemia (hypersensitivity to DNA cross linking, can cause aplastic anemia)
4Bloom syndrome general chromosomal instability
5Hereditary nonpolyposis colorectal cancer (HNPCC) defect in DNA mismatch repair enzymes

Question 2

What micro tubular motor proteins are known for rapid axonal transport; which is anterograde and which is retrograde?

Answer 2

Kinesin anterograde moves vesicles and organelles toward the ends of microtubules

Dynein retrograde transport toward the nucleus

Question 3

What is Nissl substance?

Answer 3

neurons rough ER

Question 4

How can you detect a neural tube defect in a pregnant woman via amniocentesis; what are you looking for?

Answer 4

Looking for clues to leaky CSF namely AFP and ACh esterase

Question 5

Which nerve plexi are absent in Hirshsprungs disease?

Answer 5

myenteric and submucosal

Question 6

When you think of Niemann-Pick what enzyme comes to mind? Whats the pathology?

Answer 6

sphingomyelinase deficiency

sphingomyelin accumulates in phagocytes cause “foamy histiocytes” and accumulate in the spleen and liver hepatosplenomegally. Also deposits in the retina= cherry red spot similar to Tay-Sachs

Question 7

What clinical findings and neuropsychiatric findings are associated with fragile X syndrome?

Answer 7

Macrocephaly, promenant forehead and chin with long narrow face, and big balls.

ADHD. Autism spectrum, delay

Defect FMR1 gene, worse in men

Question 8

Neurofibromatosis type 1

Answer 8

large pedunculate lesions , cafe au last spots (hyper pigmented lesions look like patchy freckles), Lisch nodules (hartomas of the iris), pseudo arthritis, and some associated tumors.

Question 9

How is Neisseria meningitidis spread and how does it reach the meninges?

Answer 9

Respiratory droplets

pharynx blood choroid plexus meninges

Question 10

Basic WNV presentation

Answer 10

Elderly, febrile rash encephalitis/confusion, flaccid paralysis syndrome, in summer.

Question 11

Signs of serotonin syndrome

Answer 11

SSRIs with MOA inhibitors or triptans, or TCA overdose. leads to neuromuscular excitation: hyperreflexia, clonus, tremor. autonomic stimulation: tacky, sweaty, N/V. Agitated and confused

Question 12

How does capsaicin work?

Answer 12

inhibits substance P over time

Question 13

what is postherpetic neuralgia?

Answer 13

Pain along a dermatome from VZV due to an residual neuritis due to sensitization of afferent nerves in the dorsal horn. This can last for months

Tx TCA, anticonvulsants oral, or capsaicin topical

Question 14

Categories the symptoms associated with organophosphate poisoning in a life long farmer

Answer 14

ACh overstimulation, inhibition of ACh esterase

DUMB BELSS (LSS lacrimation, salivation, sweating)

Question 15

MG in addition to muscle weakness has involvement of which organ?

Answer 15

thyroid involvement usually an anterior mediastinal mass

Question 16

cyproheptadine is a tx for which condition

Answer 16

serotonin syndrome

Question 17

Which pyramidal tract is associated with non ocular cranial nerves?

Answer 17

corticobulbar tract (everything but the bulb/eye)

Other pyramidal tract is the descending corticospinal tract

Question 18

dysmetria define

Answer 18

difficulty with measuring distance=over reach with hand

Question 19

What are the components of “red neurons”

Answer 19

loss of Nissl substance (neuronal rough ER), pyknotic nuclei, and eosinophilic cytoplasm

Nucleus:
Karyolysis, pyknosis (small nucleus), and karyorrhexis (fragmentation)

Question 20

How are cross sections shown in neuropathology; whats the orientation?

Answer 20

Pathologists perspective L on observers L and R on observers R.

Question 21

Other than esophageal, what are some other causes of dysphagia?

Answer 21

stroke, CN involvement X, XII, tumor, dry mouth (conditions and Rx like anticholinergics), scheme check

Question 22

The substantial nigra projects via what pathway into the cerebrum?

Answer 22

nigrostriatal path

Question 23

In all forms of addiction changes occur in what neuronal pathway? Where does the path begin and end

Answer 23

Mesolimbic pathway/pleasure path: Begins in the midbrain ventral segmental area (consists of dopaminergic, GABAergic and glutamatergic neurons), and connects to the nucleus accumbens (in the ventral striatum)