12.9 Genetic Disease of the NS

Question 1

what is the hallmark feature (grossly) of metachromatic leukodystrophy?

Answer 1

diffuse demyelination

Question 2

metachromic leukodystrophy is a __________________ disorder caused by the deficiency of ______________.

Answer 2

lysosomal storage

aryl-sulphatase A

Question 3

what do you find in imaging with patients with neurofibromatosis type 2?

Answer 3

meningiomas

bilateral vestibular schwannomas

ependymomas

Question 4

what is the hallmark clinical sign of neurofibromatosis type 2? what else can be found?

Answer 4

bilateral vestibular shwannomas

meningiomas

Question 5

Huntington’s is a _______ repeat expansion

Answer 5

CAG

Question 6

what is this showing? what disease?

Answer 6

Tay Sach’s

ganglioside buildup (storage material buildup due to lysosomal enzyme malfunction)

Question 7

in Huntington’s, you get polyglutamate expansion, leading to ____________ of proteins. These _______ and form intracellular inclusions that are toxic

Answer 7

misfolding

aggregation

Question 8

Huntington’s is an autosomal ________ disorder

Answer 8

dominant

Question 9

in Huntington’s disease, there is degeneration of the ________ and _________

Answer 9

caudate and putamen

Question 10

neurofibromas are ________ the nerve while schwannomas are ________ the nerve

Answer 10

within

around

Question 11

neurofibromatosis type 2 has a mutation in ________ which is a _______________

Answer 11

merlin

tumor suppresor gene

Question 12

In metachromatic leukodystrophy, there is a buildup of __________. Why is this bad?

Answer 12

sulfatide

can build up in oligos and Scwann cells - toxic - demyelination

Question 13

in Huntington’s, there is a decrease in the striatum ________ projections to the globus pallidus ________ via the _______ pathway

Answer 13

inhibitory

externa

indirect

Question 14

plexiform neurofibromatoses look like a:

Answer 14

twisted rope

Question 15

what is this showing? what disease?

Answer 15

this is showing a buildup of sulfatides in macrophages.

Metachromatic leukodystrophy

Question 16

if you have problems with _______ ______ you will end up with accumulation of storage material

Answer 16

lysosomal enzymes

Question 17

what does this gross brain show? what disease?

Answer 17

degeneration of caudate and putamen

Huntington’s

Question 18

Tay sachs: a mutation in _____________ A gene results in increased storage of _____________ in neurons

Answer 18

hexosaminidase A glangliosides

Question 19

vestibular schwannomas are usually found at what anatomical location?

Answer 19

cerebellar-pontine angle

Question 20

what is this? what condition could this person possibly have

Answer 20

vestibular schwannoma at the cerello-pontine angle

neurofibromatosis type 2

Question 21

in neurofibromatosis 1, the mutated gene is ____________. What does this gene do?

Answer 21

neurofibromin

turns of RAS to inactive state

Question 22

tay-sachs is a neuronal ___________ disease

Answer 22

storage