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Neurogenetics With Complete Solutions Latest Update
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Neurogenetics With Complete Solutions LatestUpdate
Neurogenetics - correct answers study of the relationship of genes to the
development and function of the central and peripheral nervous system
neurogenetic disorders are.... - correct answers clinical diseases caused by defect
in one or more genes which affect the development and function of the
neuroectoderm
located based classification schemes: - correct answers brain (subdivided to
location of defect: cortical, basal ganglia, cerebellum)
spinal cord/anterior horn cell disorder
peripheral nervous system disorders
muscle/neuromuscular junction disorders
multifocal disease
genetic bases of neurogenetic disroders - correct answers chromosomal
abnormalities
single gene defect (including trinucleotide repeats)
mitochondrial
imprinting
,examples of cerebral cortical disorders - correct answers developmental
delay/autism
neurocutaneous syndromes
epilepsy
cortical dysplasia/neuronal migrational disorder
dementia
examples of basal ganglia disorders - correct answers Wilson disease
Huntington disease
Parkinson disease
cerebellar disorders include - correct answers spinocerebellar ataxia
genetic syndromes associated with DD - correct answers Cornelia DeLange
Syndrome
Fragile X Syndrome
Maple syrup urine disease
genetic syndromes associated with ASD - correct answers Fragile X Syndrome
Rett Syndrome
Klinefelter disease
PKU
adenosine deaminase deficiency
,disorders of creatine metabolism
neurocutaneous syndromes are syndromes with ___ - correct answers skin and
nervous system manifestations
examples of neurocutaneous syndromes - correct answers Neurofibromatosis
Tuberous Sclerosis
Sturge Weber Syndrome (abnormal vascularity + port wine stain on face +
seizures)
many types of epilespy are due to - correct answers mutations in ion channels
ion channels implicated in epilepsy - correct answers calcium channel
sodium channel
potassium channel
ligand-gated channels
examples of genetic epilepsy - correct answers nicotinic acetylcholine receptor
abnormality
GABAa receptor defect
SCN1A (sodium channels) - generalized epilepsy with febrile seizures
potassium channels: episodic ataxia with myokymia or benign familial neonatal
epilepsy
, stages of cortical development - correct answers 1. proliferation: 5-20w
2. migration:6-24w
3. organization/differential: 16w to postnatal
proliferation - correct answers stem cells proliferate and differentiate into young
neurons or glial cells deep in the forebrain
migration - correct answers cortical neurons migrate away from their place of
origin in a radial or tangential manner towards pial surface (inside out pattern)
organization/differentiation - correct answers cortical organization within six layers
associated with synaptogenesis and apoptosis with differentiation into mature
cells
examples of cortical dysplasia problem with segmentation - correct answers
schizencephaly
examples of cortical dysplasia problem with prosencephalon cleavage - correct
answers holoprosencephaly
septo-optic dysplasia
agenesis of corpus callosum
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