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