leukodystrophies

Question 1

metachromatic leukodystrophy

Answer 1

AR deficiency of arylsulfatase A

Question 2

krabbe disease

Answer 2

AR deficiency of galactocerebroside beta-galactosidase

Question 3

adrenoleukodystrophy

Answer 3

AR or X-linked peroxisomal defects -> elevated VLCFAs

Question 4

canavan disease

Answer 4

AR aspartoacylase deficiency

Question 5

pelizzaeus-merzbacher disease

Answer 5

X-linked mutation in proteolipid protein

Question 6

vanishing white matter disease

Answer 6

AR translation initiation factor abnormality (unclear link to myelin)

Question 7

alexander disease

Answer 7

AR mutations in GFAP

Question 8

aspartoacylase deficiency

Answer 8

canavan disease, AR

Question 9

deficiency of galactocerebroside beta-galactosidase

Answer 9

krabbe disease, AR

Question 10

translation initiation factor abnormality

Answer 10

vanishing white matter disease, AR

Question 11

GFAP mutations

Answer 11

alexander disease, AR

Question 12

deficiency of arylsulfatase A

Answer 12

metachromatic leukodystrophy, AR

Question 13

mutation in proteolipid protein

Answer 13

pelizzaeus-merzbacher disease, X-linked

Question 14

peroxisomal defects -> elevated VLCFAs

Answer 14

adrenoleukodystrophy, AR or X-linked