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Aicardi Syndrome
1) clinical features 2) inheritance |
1) agenesis of the corpus collosum, infantile spasms, chorioretinal defects, polymicorgyria, mental retardation
2) x-linked dominant; lethal in boys |
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X-linked disorders for:
1) boys 2) girls 3) either |
1) fragile x, duchenne/beckers, Pelizeus Merz, ADL (mostly)
2) Retts, Aicardi syndrome, hereditary subcortical band heterotopia 3) CMT-X |
 1) what is this 2) typical cause 3) distinguishing feature? |
1) porencephaly
2) intrauterine insult 3) cleft lined by white matter |
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Genes associated with lissencephaly
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LIS-1
Reelin (associate with cerebellar hypoplasia |
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Metabolic and genetic disorders associated with megalencaphaly
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GM1 and GM2 gangliosidosis
MPS Alexanders and Canavans TS NF1 |
 1) name the defect 2) most common etiology |
1) closed lip schizencephaly (see also open lip)
2) intrauterine insult |
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Corticospinal tracts myelinate through the first ___ years of life, which corresponds to the ____ reflex
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2, babinski
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The bulk of CNS myelination begins at the ___ trimester and continues to about ___ years postnatally. However, subcortical association fibers, particularly of the ___ cortex are not complete until ___.
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3rd, 2, frontal, adulthood
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 1) name the defect 2) most common etiology |
1) bilateral periventricular nodular heterotopia
2) x linked, almost always in females |
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The ___ is the first neural tissue formed from ___ under the influence of the underlying ___, and is first recognized at the ___ week.
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Neural plate, ectoderm, notochord, 3rd.
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The anterior and posterior neuropores close by day ___, and is potentially reliant upon what vitamin.
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28, folic acid
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1) The initial neural tube is divided into what 3 structures
2) These are further subdivided into the |
1)Prosencephalon, mesencephalon, rhombencephalon
2)Pros becomes telencephalon (cerebral hemispheres) and diencephalon (thalamus, hypo, pineal), mesencephalon becomes midbrain, rhombencepahlone forms met (pons) and myelencephalon (medulla) |
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Arcuate scotoma characteristic of
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Nerve fiber bundle defects (eg glaucoma)
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Sector scatoma or defects typically caused by
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Retinal lesions
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Central field defects typically caused by lesion that affect ___, ____, or ___.
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Optic nerve, macula, or papillomacular bundle
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