Path XIII Flashcards
common molecular defect in autosomal dominant spinocerebellar ataxias
CAG triplet expansion
polyglutamine Q
HD or autosomal dominant spinocerebellar ataxia
phenomenon of anticipation
HD or autosomal dominant spinocerebellar ataxias
paternal transmission
HD or autosomal dominant spinocerebellar ataxias
core neuropathy in autosomal dominant spinocerebellar ataxias
cerebellar degeneration
demyelinating diseases
MS
neuromyelitis optica
progressive multifocal leukoencephalopathy
guillain barre syndrome
neuromyelitis optica
b/l painful optic neuritis and spinal cord demyelination
W>M
poor recovery
mutation in neuromyelitis optica
auto Ab aquaporin 4, water channel of astrocytes
how to monitor neuromyelitis optica disease
serum titers of auto Ab aquaporin4
Tx neuromyelitis optica
plasmaphoresis +/- anti CD20 Ab therapy
PML
lytic lesions of oligodendrocytes
PML shows up when
young age after primary infection
latent in kidneys and lymphoid tissues for life
most PML in what patients
AIDS
cancer
inflammatory disorders
organ transplant recipients
acute inflammatory demyelinating polyneuropathy
guillain barre syndrome
PML attacks what part of brain
cerebellum and pons
enlarged homogenous oligodendrocyte nucleus with inclusion
PML
MS
autoimmune demyelinating disease with remitting episodes neurologic loss
separate in time in areas of white matter separate in space
pathophys MS
TH1 TH17 lymphcytes react to myelin Ag
type HS in MS
type IV
Ig in MS
IgG oligoclonal bands in CSF
loss of myelin in MS lead to what
dec saltatory conduction, initial block then reorganization happens and have slower continuous propagation of signal
histology of an active plaque of MS shows what
lipid laden macrophages
inactive plaque in MS
loss of oligodendrocytes, astrocyte proliferation and gliosis causing grossly firm areas (sclerosis)
geographic area where MS more present
northern latitudes
type of genetic effect of MS
mildy genetic
7x more likely if sibling has it
polymorphic
common lesions in MS
peri ventricular
pale lesions on spinal cord in MS show what
demyelination
MS axons
can recover from demyelination somewhat
presentation MS
F3:M1 young adult sensory loss, spinal cord motor and autonomic optic neuritis constitutional Sx
signs MS
UMN signs
neurologic defects corresponding to conduction loss
Dx MS
more than 1 attack, more than 1 lesion
imaging : MRI with plaques and edema, black holes of neuronal loss
CSF: IgG oligoclonal bands commonly present
Tx for acute MS attacks
corticosteroids
devics disease is
neuromyelitis optica
neuromyelitis optica is reserved to what areas
restricted to optic nerves and spinal cord
oligoclonal bands
in MS not NMO
are there WBC in CSF of guillain barre and MS
no and no
what disease, guillain barre or MS has increased protein
guillain barre
type of syndrome central pontine myelinolysis
osmotic demyelination syndrome
when does central pontine myelinolysis occur
hyponatremic patients with corrected rapidly and in patients with severe hyperosmolality no preceded by hyponatremia
key triggering factor in central pontine myelinolysis
dysosmolar state where electrolyes and organic osmolytes move out of brain cells into extracell space
what separates the chambers of anterior compartment of eye
the iris
what separates the posterior and anterior compartments of eyes
lens
most internal structure of eye
retina
most external structure of eye
sclera
what gives retinal aa branches
ophthalmic a
retinal a occlusion can be caused by
atheromatous emboli from ipsilateral internal carotid stenosis
stenosis from HTN, diabetes
vasculitis- infarction of entire artery
amaurosis fugax
RIA of retinal a
what are signs of TIA of retinal a
browning out or loss of vision in one eye for around 10 minutes
what causes TIA retinal a
ipsi internal carotid stenosis
anterior ischemic optic neuropathy
short posterior ciliary aa that get occluded causes sudden vision loss in one eye
onset of anteiror ischemic optic neuropathy occurs when
upon wakening
can be seen in termporal arteririts
