69 Pathology: Metabolic Neuronal Diseases and Disorders Flashcards
1
Q
Metabolic Neuro Diseases
- What organelle breaks down sphingolipids and mucopolysacchared?
A
2
Q
Lysosomal Storage Dieases
- What is the difference between autpphagy and herterphagy?
A
3
Q
Lysosomal Storage Dieases
- Whatis Primary Storage?
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4
Q
Lysosomal Storage Dieases
- Why does secondart storage occur?
- What happens when dysfunctional mitochondria accumulate?
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5
Q
Lysosomal Storage Dieases
- How many diseases have been ID’ed?
- How are these categorized?
A
6
Q
Lysosomal Storage Dieases
- What are the 5 features that are common to LSD’s?
A
7
Q
Gangliosidoses
- What accumulates in these diseases?
- What are the subclassifications for these?
A
8
Q
Gangliosidoses: Tay Sachs
- How common is this?
- Is this a loss of function or gain function?
- What enzyme is implicated?
- What does it degrade?
A
9
Q
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)
A
10
Q
Gangliosidoses: Tay Sachs
- GM2 gangliosides will accumulate in many tissues.
- What tissues does it accumulate in, and which tissues dominate the clinical picture?
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11
Q
Gangliosidoses: Tay Sachs
- Where are the 3 areas that GM2 will acccumulate in CNS cells?
- Histology
- What do cells look like?
A
12
Q
Gangliosidoses: Tay Sachs
- What will an electron microscope show when examing lysosomes?
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13
Q
Gangliosidoses: Tay Sachs
- What will the retina look like?
A
14
Q
Gangliosidoses: Tay Sachs
- What happens to the cell during the unfolded protein response?
A
15
Q
Gangliosidoses: Tay Sachs
- What is the target of many clincial trials?
A
16
Q
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?
A
17
Q
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?
A
18
Q
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?
A
19
Q
Niemann-Pick
- Types A and B
- What happens to neurons when the lipid accumulation?
A
20
Q
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?
A
21
Q
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?
A
22
Q
Niemann-Pick
- Type C
- When does the most common form manifest in life?
- What symptoms/signs occur?
- When does the most common form manifest in life?
A
23
Q
Gaucher Disease
- What enzyme is deficient?
- What accumulates?
- What cells are affecte?
- What kind of inheritence do all varients have?
A
24
Q
Gaucher Disease
- How are macrophages affected?
- What happens to their size and apperance?
A
25
Q
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?
A
26
Q
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?
A
27
Q
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?
A
28
Q
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?
- Which type of inheritence do they all have, aside from Hunter Syndrome.
A
29
Q
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?
A
30
Q
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?
A
31
Q
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?
A
32
Q
Hypoglycemia
- What condition does this resemble?
- What cells are very susceptible to this?
- Which cells are largey spared?
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33
Q
Hyperglycemia
- What 3 conditions is this associated with?
- What do patients develop, and through what mechanism?
- Why should correction of this be gradual?
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34
Q
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?
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35
Q
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?
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36
Q
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?
A
