TY - JOUR
T1 - Metachromatic leukodystrophy
T2 - Multiple nonfunctional and pseudodeficiency alleles in a pedigree: Problems with diagnosis and counseling
AU - Francis, Gordon S.
AU - Bonni, Azad
AU - Shen, Ning
AU - Hechtman, Peter
AU - Yamut, Bassem
AU - Carpenter, Stirling
AU - Karpati, George
AU - Chang, Patricia L.
N1 - Copyright:
Copyright 2016 Elsevier B.V., All rights reserved.
PY - 1993/8
Y1 - 1993/8
N2 - Metachromatic leukodystrophy is due to deficiennt activity of arylsulfatse 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 enzyme activity detectable with artificial substrates in vitro but no clinical dysfunction (pseudodeficiency alleles). The described family has various combinations of normal, nonfunctional, and pseudodeficiency alleles that presented diagnostic and counseling dilemmas which were resolved at the genomic levle. We find no evidence that compound beterozygote individuals have subclinical involvement of the nervous system. We report the clinical, pathological, electrophysiological, imaging, biochemical, and genetic data of this family and discuss the difficulties in analyzing such pedigrees.
AB - Metachromatic leukodystrophy is due to deficiennt activity of arylsulfatse 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 enzyme activity detectable with artificial substrates in vitro but no clinical dysfunction (pseudodeficiency alleles). The described family has various combinations of normal, nonfunctional, and pseudodeficiency alleles that presented diagnostic and counseling dilemmas which were resolved at the genomic levle. We find no evidence that compound beterozygote individuals have subclinical involvement of the nervous system. We report the clinical, pathological, electrophysiological, imaging, biochemical, and genetic data of this family and discuss the difficulties in analyzing such pedigrees.
UR - http://www.scopus.com/inward/record.url?scp=0027214718&partnerID=8YFLogxK
U2 - 10.1002/ana.410340218
DO - 10.1002/ana.410340218
M3 - Article
C2 - 8101704
AN - SCOPUS:0027214718
SN - 0364-5134
VL - 34
SP - 212
EP - 218
JO - Annals of neurology
JF - Annals of neurology
IS - 2
ER -