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12 Cards in this Set

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  • Back
what gene is usually mutated in rett syndrome and what is its function?

it is a transcription factor
it binds methylated DNA in the promotor region of certain genes and causes the silencing of the gene.

BDNF is a prime target of MECP2
What is one of the primary genes silenced by MECP2?

brain derived neurotrophic factor
the abnormal positioning of a joint. not a spasticity b/c it can be repositioned
rett syndrome - neurodegenerative or neurodevelopmental disorder?
neurodevelopmental disorder

although the girls do make gains in maturity and regress
what is they cytology of neurons in girls w/ rett syndrome
they are closely packed w/ reduced dendritic arbors.

no neurodegeneration
where do most mutations occur in rett syndrome
in the MECP2 gene in the paternal x chromosome. that's why not many boys get a defective MECP2 gene
what does the rett syndrome mutation cause in boys
fatal encephalopathy
how could someone have the mutation and have a very mild case of rett syndrome?
skewed x inactivation
the pigment in locus ceruleus and the substantia nigra?
a biproduct of catecholamine (NE, dopamine) synthesis
which cranial nerves originate midline?
what makes up the inferior parietal lobule?
the supramarginal gyrus and the angular gyrus
what could happen if the tonsil of the cerebellum were to stick down into the foramen magnum?
Arnold Chiari Syndrome
compression of the spinal cord by the tonsil!