Neural Development Defects

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Examples of type of developmental disorder
Neural tube closure failure, neural crest cell disorders. Brain development disorders.
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Examples of neural tube closure failure and where they occur
Anacephaly - between anterior neuropore and closure 1. Craniorachischisis - defect at closure 1. Spina bifida - defect of closure at the posterior neuropore
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What do the neural crest cells generate
Neurons and glia of the PNS, including submucosal plexus and chromatin cells of the adrenal medulla
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Example of a neural crest developmental disorder, relating to the DRG
TrkA is the receptor that is involved in nocioceptive neurons in the DRG. A mutation leads to CIPA - chronic insensitivity to pain with anhidrosis
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What is a neuroblastoma?
A tumor that arises from the neural crest cells that would form the SNS
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Where do the neural crest cells that form the enteric nervous system come from?
Vagal and sacral levels of the neural tube - mostly vagal.
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What is RET?
a transmembrane receptor tyrosine kinase
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What does a mutation in RET lead to?
Hirschprungs disease - an agangliogenesis of the lower bowel.
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What does RET appear to be required for?
Survival and differentation of ganglion precursor cells.
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Mutations in what ligand and receptor leads to RET failure in mice?
GDNF is the ligand, GFRa1 is the co-receptor
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What is the most common form of malignant brain tumour in childhood
Medulloblastoma
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What two cellular layers can they arise from?
Neuroepithelium and External granular layer
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What mutated gene is thought to be involved?
Isochromosome 17q has a
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Another common brain development disorder that occurs in 1 in 4000 live births
Agenesis of the corpus callosum
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How does the corpus callosum form?
Pioneer axons are funnelled through by glial precursors.
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Symptoms of agenesis of the corpus callosum
General cognitive okay - social isolation, impaired comprehension of idioms and proverbs, decreased self awareness.
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Three disorders associated with agenesis of the CC
Andermann syndrome - KCC3. Mowatt Wilson Syndrome, ZFHX1b. Foetal alcohol syndrome - 7% incidence.
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What do genes associated with autism affect?
The synapse, eg, SHANK3, ngln3 and 4.
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Card 2

Front

Examples of neural tube closure failure and where they occur

Back

Anacephaly - between anterior neuropore and closure 1. Craniorachischisis - defect at closure 1. Spina bifida - defect of closure at the posterior neuropore

Card 3

Front

What do the neural crest cells generate

Back

Preview of the front of card 3

Card 4

Front

Example of a neural crest developmental disorder, relating to the DRG

Back

Preview of the front of card 4

Card 5

Front

What is a neuroblastoma?

Back

Preview of the front of card 5
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