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Molecular Basis Of Disease/ Microbiology And Immunology > Congenital Diseases Associated With The Central Nervous System > Flashcards

Congenital Diseases Associated With The Central Nervous System Flashcards

1
Q

What does the neural tube give rise to?

A 
Brain 
Spinal cord
Cranial and spinal nerves 
Eyes and other sensory organs
Neural crest
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2
Q

When is the neural tube formed?

A

In gastrulation at week 3/4

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3
Q

What happens as the neural tube closes?

A

Becomes patterned along the dorso-ventral and rostro-caudal axis

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4
Q

What are defects classified according to?

A

Stage thought to be affected

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5
Q

What are the classifications of neural tube defects?

A

Early CNS patterning
Neural tube closure
Regional brain defects

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6
Q

What is an example of an early CNS patterning defect?

A

Holoprosencephaly

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7
Q

What are some examples of neural tube closure defects?

A

Chraniorachischsis
Exencephaly
Spina bifida

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8
Q

How many neural tube closure points are there?

A

Three main and two others

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9
Q

Where is the first closure of the neural tube?

A

Between hindbrain and spinal cord

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10
Q

Where is the second closure of the neural tube?

A

Between forebrain and midbrain

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11
Q

Where is the third closure of the neural tube?

A

Most rostral portion of forebrain and only progresses posteriorly

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12
Q

Where is the fourth closure of the neural tube?

A

More rostral and within the hindbrain than closure 1

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13
Q

Where is the fifth closure of the neural tube?

A

Most posterior point so only progresses anteriorly

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14
Q

What are the two modes of neural tube closure?

A

Primary or secondary neurulation

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15
Q

What happens in primary neurulation?

A

Rolling up of tube

Closure is by fold apposition then ‘zipping up’

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16
Q

What is secondary neurulation?

A

Tunneling or hollowing of tail bud

17
Q

What are the steps in primary neurulation?

A 
Shaping
Folding
Elevation
Convergence
Closure
18
Q

What happens in the shaping step of primary neurulation?

A

Narrowing along the mediolateral axis and extend along the rostro-caudal axis

19
Q

What happens in the folding step of primary neurulation?

A

Occurs by the establishment of hinge points along the neural plate

20
Q

What is the first hinge point to appear in primary neurulation?

A

Midline hingepoint

21
Q

What happens in the elevation step of primary neurulation?

A

Lateral wings of neural plate to fold up

22
Q

What happens in the convergence step of primary neurulation?

A

More hinge points formed next to the neural crest which allows for the rounding of the plate

23
Q

What causes the cell wedging at hinge points in primary neurulation?

A

Microtubules and actin filaments

24
Q

What is primary neurulation controlled by?

A

Planar cell polarity pathway

25
Q

What is convergence-extension?

A

Process of lengthening by narrowing

26
Q

What does convergence-extension require?

A

Cells to become polarised in the plane of the cell layer

27
Q

What is convergence- extension controlled by?

A

Wnt-PCP pathway

28
Q

What are the names of coreceptors necessary for signal transduction?

A

Vangl and celsr

29
Q

What does the wnt-PCP pathway lead to?

A

Regulation of transcription and regulation of the cytoskeleton

30
Q

What do mouse mutants in components of the wnt-PCP pathway show?

A

Neural tube defects:

Abnormally broad neural plate with a non-bending region

31
Q

What is cell wedging?

A

Mechanism by which the hinges on the neural plate are formed

32
Q

What is cell wedging caused by?

A

Cytoskeleton remodelling at the apical cortex

33
Q

What maintains the shape of subapical epithelial cells?

A

Lots of actin filaments that maintain the shape of cells

34
Q

What are some environmental factors that are associated with neural tube defects?

A

Maternal diet/obesity
Diabetes
Hypertermia
Teratogenic agents

35
Q

What is hypertermia?

A

Severe disease that includes high temperature in early pregnancy

36
Q

What is an example of a teratogenic agent?

A

Valproic acid

37
Q

How much folic acid does a pregnant women with no NTD history need to take?

A

0.4mg/day

38
Q

How much folic acid does a pregnant women with a NTD history need to take?

A

5mg/day

Molecular Basis Of Disease/ Microbiology And Immunology (57 decks)

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