Path XIII

Question 1

common molecular defect in autosomal dominant spinocerebellar ataxias

Answer 1

CAG triplet expansion

Question 2

polyglutamine Q

Answer 2

HD or autosomal dominant spinocerebellar ataxia

Question 3

phenomenon of anticipation

Answer 3

HD or autosomal dominant spinocerebellar ataxias

Question 4

paternal transmission

Answer 4

HD or autosomal dominant spinocerebellar ataxias

Question 5

core neuropathy in autosomal dominant spinocerebellar ataxias

Answer 5

cerebellar degeneration

Question 6

demyelinating diseases

Answer 6

MS
neuromyelitis optica
progressive multifocal leukoencephalopathy
guillain barre syndrome

Question 7

neuromyelitis optica

Answer 7

b/l painful optic neuritis and spinal cord demyelination
W>M
poor recovery

Question 8

mutation in neuromyelitis optica

Answer 8

auto Ab aquaporin 4, water channel of astrocytes

Question 9

how to monitor neuromyelitis optica disease

Answer 9

serum titers of auto Ab aquaporin4

Question 10

Tx neuromyelitis optica

Answer 10

plasmaphoresis +/- anti CD20 Ab therapy

Question 11

PML

Answer 11

lytic lesions of oligodendrocytes

Question 12

PML shows up when

Answer 12

young age after primary infection

latent in kidneys and lymphoid tissues for life

Question 13

most PML in what patients

Answer 13

AIDS
cancer
inflammatory disorders
organ transplant recipients

Question 14

acute inflammatory demyelinating polyneuropathy

Answer 14

guillain barre syndrome

Question 15

PML attacks what part of brain

Answer 15

cerebellum and pons

Question 16

enlarged homogenous oligodendrocyte nucleus with inclusion

Answer 16

PML

Question 17

MS

Answer 17

autoimmune demyelinating disease with remitting episodes neurologic loss
separate in time in areas of white matter separate in space

Question 18

pathophys MS

Answer 18

TH1 TH17 lymphcytes react to myelin Ag

Question 19

type HS in MS

Answer 19

type IV

Question 20

Ig in MS

Answer 20

IgG oligoclonal bands in CSF

Question 21

loss of myelin in MS lead to what

Answer 21

dec saltatory conduction, initial block then reorganization happens and have slower continuous propagation of signal

Question 22

histology of an active plaque of MS shows what

Answer 22

lipid laden macrophages

Question 23

inactive plaque in MS

Answer 23

loss of oligodendrocytes, astrocyte proliferation and gliosis causing grossly firm areas (sclerosis)

Question 24

geographic area where MS more present

Answer 24

northern latitudes

Question 25

type of genetic effect of MS

Answer 25

mildy genetic 7x more likely if sibling has it polymorphic

Question 26

common lesions in MS

Answer 26

peri ventricular

Question 27

pale lesions on spinal cord in MS show what

Answer 27

demyelination

Question 28

MS axons

Answer 28

can recover from demyelination somewhat

Question 29

presentation MS

Answer 29

``` F3:M1 young adult sensory loss, spinal cord motor and autonomic optic neuritis constitutional Sx ```

Question 30

signs MS

Answer 30

UMN signs | neurologic defects corresponding to conduction loss

Question 31

Dx MS

Answer 31

more than 1 attack, more than 1 lesion imaging : MRI with plaques and edema, black holes of neuronal loss CSF: IgG oligoclonal bands commonly present

Question 32

Tx for acute MS attacks

Answer 32

corticosteroids

Question 33

devics disease is

Answer 33

neuromyelitis optica

Question 34

neuromyelitis optica is reserved to what areas

Answer 34

restricted to optic nerves and spinal cord

Question 35

oligoclonal bands

Answer 35

in MS not NMO

Question 36

are there WBC in CSF of guillain barre and MS

Answer 36

no and no

Question 37

what disease, guillain barre or MS has increased protein

Answer 37

guillain barre

Question 38

type of syndrome central pontine myelinolysis

Answer 38

osmotic demyelination syndrome

Question 39

when does central pontine myelinolysis occur

Answer 39

hyponatremic patients with corrected rapidly and in patients with severe hyperosmolality no preceded by hyponatremia

Question 40

key triggering factor in central pontine myelinolysis

Answer 40

dysosmolar state where electrolyes and organic osmolytes move out of brain cells into extracell space

Question 41

what separates the chambers of anterior compartment of eye

Answer 41

the iris

Question 42

what separates the posterior and anterior compartments of eyes

Answer 42

lens

Question 43

most internal structure of eye

Answer 43

retina

Question 44

most external structure of eye

Answer 44

sclera

Question 45

what gives retinal aa branches

Answer 45

ophthalmic a

Question 46

retinal a occlusion can be caused by

Answer 46

atheromatous emboli from ipsilateral internal carotid stenosis stenosis from HTN, diabetes vasculitis- infarction of entire artery

Question 47

amaurosis fugax

Answer 47

RIA of retinal a

Question 48

what are signs of TIA of retinal a

Answer 48

browning out or loss of vision in one eye for around 10 minutes

Question 49

what causes TIA retinal a

Answer 49

ipsi internal carotid stenosis

Question 50

anterior ischemic optic neuropathy

Answer 50

short posterior ciliary aa that get occluded causes sudden vision loss in one eye

Question 51

onset of anteiror ischemic optic neuropathy occurs when

Answer 51

upon wakening | can be seen in termporal arteririts