Path - Demyelinating, Neurodegenerative, etc.

Question 1

what disease process often follows a viral infection or sometimes a viral immunization?

Answer 1

acute disseminated encephalomyelitis (ADEM)

Question 2

what disease process almost always follows an upper respiratory infection?

Answer 2

acute necrotizing hemorrhagic encephalomyelitis (ANHE)

Question 3

list the inclusions seen in Huntington’s, Alzheimer’s, and parkinsons’

Answer 3

HD: expanded polyglutamine repeats

Alz: beta amyloid

PD: alpha-synuclein

Question 4

describe the morphological hallmark of Alzheimer’s

Answer 4

global cortical atrophy starting in the frontal and temporal lobes –> then parietal lobes –> then occipital lobes

Question 5

congo red stain will stain amyloid, and can be indicative of what dz processes

Answer 5

• alzheimers’s

- cerebral amyloid angiopathy

Question 6

compare morphology of pick disease and AD

Answer 6

pick: only frontal lobes are affected

AD: global

Question 7

what is the demographic for progressive supranuclear palsy

Answer 7

men (2x more likely)

5th-7th decade

Question 8

compare adult and juvenile Parkinson disease in terms of inheritance and protein

Answer 8

adult: autosomal dominant, alpha-synuclein
juvenile: autosomal recessive, alpha-synuclein and parkin

Question 9

morphology of brain of pt with HD

Answer 9

brain is small

• decreased body of corpus callosum
• decreased head of caudate nucleus
• decreased globus pallidus

Question 10

what is anticipation and how does it affect patients with HD

Answer 10

repeat expansions during spermatogenesis lead to earlier onset fo the disease (juvenile form)

• inherited through the father

Question 11

describe the pathogenesis of HD

Answer 11

there is loss of medium spiny striatal neurons that leads to dysregulation of basal ganglia circuitry that modulates motor output

Question 12

failure to remove cells with DNA damage is characteristic of what dz process

Answer 12

ataxia telangiectasia

Question 13

SOD1 (superoxide dismutase) mutation is associated with what dz process

Answer 13

ALS

Question 14

bunina bodies are associated with what dz process

Answer 14

ALS

Question 15

decreased side of anterior horn neurons is associated with what disease process

Answer 15

ALS

Question 16

protein and location for Alzheimer

Answer 16

protein: beta amyloid and tau
location: extracellular neurons

Question 17

protein and location for progressive supra nuclear palsy

Answer 17

Protein: Tau

location: neurons and glia

Question 18

protein and location for Parkinson

Answer 18

Protein: alpha-synuclein

location: neurons

Question 19

protein and location for ALS

Answer 19

Protein: TDP-43, SOD-1

location: neurons

Question 20

what gene and enzyme are affected in Tay-Sachs

Answer 20

gene: HEXA
enzyme: hexosaminidase A (can’t degrade GM2 gangliosides)

Question 21

age of presentation of Tay-sachs

Answer 21

about 1 year old, then death around ages 2-3

Question 22

cherry red spots in maculae is indicative of what dz

Answer 22

tay sachs

Question 23

in mitochondrial encephalopathies, what is the most commonly affected tissue, and what is the second

Answer 23

first: muscle
second: CNS

Question 24

sx of kearn-sayre syndrome

Answer 24

cerebellar ataxia

progressive external ophthalmoplegia

pigmentary retinopathy

cardiac conduction defects

progressive inability to move the eyes and eyebrows

Question 25

histologic hallmarks of kearn-sayre syndrome

Answer 25

spongiform change in the gray and white matter and neuronal loss most evidently in the cerebellym

Question 26

progressive inability to move the eyes and eyebrows indicates what dz

Answer 26

kearn-sayre syndrome

Question 27

what causes beriberi dz

Answer 27

thiamine deficiency (B1)

Question 28

pseudolaminar necrosis of the cortex could be indicative what of what problem

Answer 28

hypoglycemia