Metachromatic leukodystrophy: multiple nonfunctional and pseudodeficiency alleles in a pedigree: problems with diagnosis and counseling.

doi:10.1002/ana.410340218

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Article

Metachromatic leukodystrophy: multiple nonfunctional and pseudodeficiency alleles in a pedigree: problems with diagnosis and counseling.

Annals of neurology - 1 Aug 1993

Francis G S, Bonni A, Shen N, Hechtman P, Yamut B, Carpenter S, Karpati G, Chang P L

Abstract excerpt

Metachromatic leukodystrophy is due to deficient activity of arylsulfatase A, an enzyme important in myelin catabolism. The deficiency can be caused by different point mutations in the gene coding for arylsulfatase A (nonfunctional alleles). In addition, certain mutations result in low levels of...

Topics

Adult
Alleles
Cerebroside-Sulfatase
Female
Genetic Counseling
Genotype
Heterozygote
Humans
Leukodystrophy, Metachromatic
Male
Middle Aged
Mutation
Pedigree

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