Neuro pt 4 Flashcards
what is hyderocephalus
excess CSF that accumulates in the skull
what are the two kinds of hyderocephalus
non-communicating
communicating
what is non-communicating hyderocephalus
flow of CSF through the ventricular system is blocked
what is communicating hyderocephalus
impaired absorption of CSF
what is the most common cause of hyderocephalus
developmental abnormalities:
spinal cord stenosis
atresia
what is arnold-chiari malformation
lower part of the brain pushed down into the spinal canal
what does non-communicating hydrocephalus usually result from
fetal developmental disorder
what are the 3 most common types of spina bifida
spina bifida occulta
meningocele
myelomeningocele
what occurs in spina bifida occulta
spinous processes do not fuse
are there herniations of spinal cord and meninges with spina bifida occulta
nope
what occurs in meningocele spina bifida
herniation of the meninges occurs through a defect NO NERVES
what disorder forms a sac with CSF and meninges
meningocele
what is the most serious form of spina bifida
myelomeningocele
what occurs with myelomeningocele spina bifida
herniation of spinal cord and nerves, meninges and CSF
what is cerebral palsy typically due to
brain damage in perinatal period
what is cerebral palsy
group of disorders with some degree of motor impairment
what is the first group of cerebral palsy
largest - includes those with spastic paralysis
what is the second group of cerebral palsy
those with dyskinetic disease - usually from damage to basal nuclei or cranial nerves
what is dyskinetic disease
uncontrolled involuntary movements
what is the third group of cerebral palsy
includes those with ataxic cerebral palsy (balance and coordination trouble)
what is the funciton of the growth cone
allows growing axons to reach specific destinations
what percent does genetics play in autism
62
what percent of genes that have to do with autism are de novo
9.5
what are the 3 big categories of what gene mutations affect in ASD
chromatin remodeling
Protein synthesis
Synaptic functions
chromatin remodeling ASD
mutations in genes encoding key regulators of chromatin remodeling and gene transcription
Protein synthesis ASD
affects mRNA and changes the levels of activity driven synaptic proteins
Synaptic functions ASD
many proteins encoded by ASD risk genses participate in different aspects of neuronal connectivity
ie fucking up the excitatory and inhibitory synapses
mutations in what gene causes Rett syndrome
MeCP2
true or false MeCP2 can be a repressor or an activator
true
what is fragile X syndrome
a syndrome that causes delays with language, hyperactivity and autism like behaviours
what are the symptoms of retts syndrome
normal development for 6-18 months and then a loss of learned language skills and purposeful hand movements
what gene causes fragile X syndrome
FMR1 - on the X chromosome
an unusual number of what were found in the FMR1 gene
CGG repeats
what do synaptic cell adhesion molecules do
keep cells talking to each other can close by - stabilize the contacts and ensures recognition
what gene accounts for about 1% of all ASD cases
16p11.2 deletion
what does 16p11.2 deletion cause a delay in
motor delay and language delay