12.9 Genetic Disease of the NS Flashcards
what is the hallmark feature (grossly) of metachromatic leukodystrophy?
diffuse demyelination
metachromic leukodystrophy is a __________________ disorder caused by the deficiency of ______________.
lysosomal storage
aryl-sulphatase A
what do you find in imaging with patients with neurofibromatosis type 2?
meningiomas
bilateral vestibular schwannomas
ependymomas
what is the hallmark clinical sign of neurofibromatosis type 2? what else can be found?
bilateral vestibular shwannomas
meningiomas
Huntington’s is a _______ repeat expansion
CAG
what is this showing? what disease?
Tay Sach’s
ganglioside buildup (storage material buildup due to lysosomal enzyme malfunction)
in Huntington’s, you get polyglutamate expansion, leading to ____________ of proteins. These _______ and form intracellular inclusions that are toxic
misfolding
aggregation
Huntington’s is an autosomal ________ disorder
dominant
in Huntington’s disease, there is degeneration of the ________ and _________
caudate and putamen
neurofibromas are ________ the nerve while schwannomas are ________ the nerve
within
around
neurofibromatosis type 2 has a mutation in ________ which is a _______________
merlin
tumor suppresor gene
In metachromatic leukodystrophy, there is a buildup of __________. Why is this bad?
sulfatide
can build up in oligos and Scwann cells - toxic - demyelination
in Huntington’s, there is a decrease in the striatum ________ projections to the globus pallidus ________ via the _______ pathway
inhibitory
externa
indirect
plexiform neurofibromatoses look like a:
twisted rope
what is this showing? what disease?
this is showing a buildup of sulfatides in macrophages.
Metachromatic leukodystrophy
if you have problems with _______ ______ you will end up with accumulation of storage material
lysosomal enzymes
what does this gross brain show? what disease?
degeneration of caudate and putamen
Huntington’s
Tay sachs: a mutation in _____________ A gene results in increased storage of _____________ in neurons
hexosaminidase A glangliosides
vestibular schwannomas are usually found at what anatomical location?
cerebellar-pontine angle
what is this? what condition could this person possibly have
vestibular schwannoma at the cerello-pontine angle
neurofibromatosis type 2
in neurofibromatosis 1, the mutated gene is ____________. What does this gene do?
neurofibromin
turns of RAS to inactive state
tay-sachs is a neuronal ___________ disease
storage
