69 Pathology: Metabolic Neuronal Diseases and Disorders

Question 1

Metabolic Neuro Diseases

• What organelle breaks down sphingolipids and mucopolysacchared?

Answer 1

Question 2

Lysosomal Storage Dieases

• What is the difference between autpphagy and herterphagy?

Answer 2

Question 3

Lysosomal Storage Dieases

• Whatis Primary Storage?

Answer 3

Question 4

Lysosomal Storage Dieases

• Why does secondart storage occur?
• What happens when dysfunctional mitochondria accumulate?

Answer 4

Question 5

Lysosomal Storage Dieases

• How many diseases have been ID’ed?
  
  • How are these categorized?

Answer 5

Question 6

Lysosomal Storage Dieases

• What are the 5 features that are common to LSD’s?

Answer 6

Question 7

Gangliosidoses

• What accumulates in these diseases?
• What are the subclassifications for these?

Answer 7

Question 8

Gangliosidoses: Tay Sachs

• How common is this?
• Is this a loss of function or gain function?
• What enzyme is implicated?
  
  • What does it degrade?

Answer 8

Question 9

Gangliosidoses: Tay Sachs

• What group of people have a high rate of carriers?
  
  • What is the frequency of heterozygote carriers in this group?
  • How can you tell if someone is a carrier? (2)

Answer 9

Question 10

Gangliosidoses: Tay Sachs

• GM2 gangliosides will accumulate in many tissues.
  
  • What tissues does it accumulate in, and which tissues dominate the clinical picture?

Answer 10

Question 11

Gangliosidoses: Tay Sachs

• Where are the 3 areas that GM2 will acccumulate in CNS cells?
• Histology
  
  • What do cells look like?

Answer 11

Question 12

Gangliosidoses: Tay Sachs

• What will an electron microscope show when examing lysosomes?

Answer 12

Question 13

Gangliosidoses: Tay Sachs

• What will the retina look like?

Answer 13

Question 14

Gangliosidoses: Tay Sachs

• What happens to the cell during the unfolded protein response?

Answer 14

Question 15

Gangliosidoses: Tay Sachs

• What is the target of many clincial trials?

Answer 15

Question 16

Gangliosidoses: Tay Sachs

• What is the most common variant?
  
  • What symptom appears first, and when do symptoms start?
  • What happens as the disease progresess?
  • When do patients usually die?

Answer 16

Question 17

Niemann-Pick

• Both types A and B
  
  • What enzyme is deficient?
  • What accumulates?
  • What group of people have an increased risk?
  • Genetics
    
    • What chromosome is the gene for the enzyme involved in this disease?
    • What is notable about this gene, relative to epigentics?

Answer 17

Question 18

Niemann-Pick: Type A

• Sphingomyelin breakdown is impaired. What two molecules would normally be made from this break down?
• What 2 cell types does Sphingomyelin accumulate in?
• What happens to macrophages?
• Why are many other organs affected by this disease?

Answer 18

Question 19

Niemann-Pick

• Types A and B
  
  • What happens to neurons when the lipid accumulation?

Answer 19

Question 20

Niemann-Pick

• Type A
  
  • When does Type manifest?
  • What symptoms/signs does it have?
  • When does death occur?
• Type B
  
  • What is notable about the enzyme?
  • What symptoms/signs does it have?
    
    • What symptoms/signs does it NOT have?

Answer 20

Question 21

Niemann-Pick

• Type C
  
  • How common is this compared to A and B?
  • What 2 genes are implcaited?
    
    • Which one is more common?
    • What do the associated proteins for this disease actualyl do?
  • Why is the different that other types of LSDs?
  • What accumulates in affected cells?

Answer 21

Question 22

Niemann-Pick

• Type C
  
  • When does the most common form manifest in life?
    
    • What symptoms/signs occur?

Answer 22

Question 23

Gaucher Disease

• What enzyme is deficient?
• What accumulates?
• What cells are affecte?
• What kind of inheritence do all varients have?

Answer 23

Question 24

Gaucher Disease

• How are macrophages affected?
  
  • What happens to their size and apperance?

Answer 24

Question 25

Gaucher Disease * How common is this? * What types of organs are involved? What is not involved? * Who has a high risk for this? * What is the prognosis?

Answer 25

Question 26

Gaucher Disease * Types 2 * When do symptoms manifest? * How severe are they? * Types 3 * When do symptoms manifest? * How severe are they? * Types 2 adn 3 * Are other organs affected? * What kind of CNS symptoms occur?

Answer 26

Question 27

Mucopolysaccharidoses (MPS) * Mucopolysaccharides are also called GAGs. * What are they apart of? * What synthesizes them? * What are the 4 Mucopolysaccharides that can accumulate in tissues if lysosomes cannot break them down?

Answer 27

Question 28

MPS * What are the features associated with these? (5) * Which feature may cause an MI? * What happens to: * the face * the eye * joints * cognition * Inheritence * Which type of inheritence do they all have, aside from Hunter Syndrome. * What inheritence does Hunter Syndrome have?

Answer 28

Question 29

MPS * Type 1 aka Hurler * What enzyme is deficient? * What accumulates? * In what cells do these accumulate? * Type 2 aka Hunter * What inheritence does this have? * Does this affect the eyes? * Is this more severe or less severe, compared to Hurler;s? * What enzyme is deficient? * What accumulates?

Answer 29

Question 30

Thiamine Deficiency * Which B vitamin is this? * What neurological symptoms an accur? * What syndrome is this called? * How is this treated? * What syndrome does this progress to when this is not treated? * What 2 cogntivie disturbances characterize this? * Who gets this?

Answer 30

Question 31

B12 Deficiency * What neurological symptoms occur? * What spinal cord tracts are affected? * How long does it take symptoms to develop? * What are the early clincial signs? * What are the late ones? * Why would vitamin replacement therapy not work?

Answer 31

Question 32

Hypoglycemia * What condition does this resemble? * What cells are very susceptible to this? * Which cells are largey spared?

Answer 32

Question 33

Hyperglycemia * What 3 conditions is this associated with? * What do patients develop, and through what mechanism? * Why should correction of this be gradual?

Answer 33

Question 34

Hepatic Encephalopathy * What cogntiive symptoms do patients have? * What motor symptoms do patients have? * What are the 3 things that cause the changes in brain function?

Answer 34

Question 35

Ethanol * What kind of cellular disturbances occur? * What part of the cerebellum can be affected in about 1% of cases, and how does this manifest?

Answer 35

Question 36

Ionizing Radiation * What symptoms can patients have? * When do these occur? * Affected Brain Regions * What pathology do these show, and what do the walls of blood vessels contain?

Answer 36