Brain malformations Flashcards

1
Q

What makes the development of the human brain unique?

A

1) Neural stem/progenitor cell expanision
2) Lateral dispersion of neurons

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2
Q

Describe the terms apical and basal in relation to brain structure

A

Apical: Inner most part
Basal: Facing the skull

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3
Q

What are the four key steps of brain development?

A

1) Neural tube closure
2) Neural stem/progenitor cell expansion
3) Neuronal differentiation
4) Neuronal migration

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4
Q

What causes spina bifida?

A

Defects in neural tube closure

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5
Q

What is, and what causes primary microcephaly?

A

A smaller brain caused by defects in neural progenitor proliferaiton.

Bonus: MCPH genes (mainly centrosomal and mitotic spindle proteins).
Zika virus can also cause this

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6
Q

What pathway is important for apical radial glial (aRG) differentiation?

A

Pax6.
It upregulates Trb2, that is important for bIP and bRG. Trb2 downregulates Pax6, so bIP and bRG does not differentiate ‘backwards’.
Trb2 also upregulates genes related to neurogenesis

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7
Q

What group of genes are involved in neuronal migration?

A

Genes related to the cytoskeleton

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