CC4: Leukodystrohpies

Question 1

inherited diseases that affect myelin development and maintenance

Answer 1

leukodystrophy

Question 2

Classical X – linked peroxisomal disorder

Answer 2

Adrenoleukodystrophy

Question 3

AdrenoLeukoDystrphy Genetic defect:

Answer 3

ABCD1 gene localizes to Xq28

Question 4

Addison’s-like disease can provoke

Answer 4

tan skin in ALD

Question 5

Rapidly progressive, inflammatory cerebral form, characterized by visual and intellectual impairment, seizures, spasticity, and a rapid progression to death

Answer 5

ALD

Question 6

ALD mri

Answer 6

occipito parietal

Question 7

ALD treatment

Answer 7

bone marrow trasnsplant

Question 8

Abnormally high levels of plasma VLCFAs

Answer 8

ALD

Question 9

Alexander disease staining:

Answer 9

GFAP

Question 10

Alexander symptoms

Answer 10

macrocephaly, 1st yr, seizures, rosenthal fibers, frontal predominant

Question 11

alexander mri

Answer 11

frontal dominance

Question 12

canavans disease is related to what gene

Answer 12

x-recessive

Question 13

canavans clinical presentation

Answer 13

megacephalia, spongy degeneration of white matter, increased NAA

Question 14

mri diffuse WM degeneration involving
u-fibers

Answer 14

canavan

high NAA

Question 15

floppy baby, demyelinating peripheral neuropath, periventrricular lesion, no eye contact

Answer 15

metachromic

Question 16

metachromic symptoms

Answer 16

progressive ataxia, cognitive decline, seizures, optic atrophy

Question 17

A lysosomal storage disease: accumulation of cerebroside sulfate

Answer 17

metachromic

Question 18

metachromic ld has what deficiency

Answer 18

Arylsulfatase-A deficiency

Question 19

what organs is involved in MLD

Answer 19

Galbladder

Question 20

abdnormal eye movements, poor head control and truncal ataxia

Answer 20

pelizaeus-merzbacher disease

Question 21

PELIZAEUS- MERZBACHER DISEASE mri

Answer 21

diffuse T2 hyperintense white matter lesions sparing the subcortical u- fibers

Question 22

PMD is involved with what protein

Answer 22

Proteolipid protein (PLP-1)

Question 23

Pathology: widespread lack of myelin due to impaired formation of myelin

Answer 23

pelizaeus-merzbacher disease

Question 24

stiff posture, jerky movements, hyperreflexia, started myoclonus

Answer 24

krabbes

Question 25

krabbes mri

Answer 25

T2 hyperintense lesions on parietal lobes

Question 26

GLOBOID CELL related

Answer 26

krabbes

Question 27

krabbes treatment

Answer 27

bone marrow transplant

Question 28

x-l revessive

Answer 28

ald and p-m

Question 29

a-d inheritance

Answer 29

alexander

Question 30

a-r

Answer 30

canavan, metachromic, krabbes

Question 31

rosenthal fibers

Answer 31

alexander

Question 32

inflammatory changes

Answer 32

ald

Question 33

spongiform degeneration

Answer 33

canavan

Question 34

Metachromatic granules

Answer 34

metachromic

Question 35

Periventricular WM

Answer 35

metachromic