i(3)so3-galactosylceramide and Chorea

i(3)so3-galactosylceramide has been researched along with Chorea* in 1 studies

Other Studies

1 other study(ies) available for i(3)so3-galactosylceramide and Chorea

Article	Year
Low arylsulphatase A activity and choreoathetotic syndrome in three siblings: differentiation of pseudodeficiency from metachromatic leukodystrophy. European journal of pediatrics, 1991, Volume: 150, Issue:4 We report on a family with a sibship of three children for whom the diagnosis of "an unusual form of metachromatic leukodystrophy (MLD)" had been suggested earlier. The patients had choreiform movements and dystonic posturing accompanied by dysarthria since childhood. The availability of the polymerase chain reaction enabled us to show that the three siblings have a pseudodeficiency genotype (ASAp/ASAp). There was no abnormal sulphatiduria, and we propose that the neurological disease and low arylsulphatase A activity are unrelated to one another in this family. A diagnosis of MLD carries very serious implications, and we recommend that gene amplification by polymerase chain reaction and hybridization with allele-specific oligonucleotide probes should be used to corroborate the diagnosis, especially when there is no abnormal sulphatiduria and when metachromatic material cannot be demonstrated in a sural nerve biopsy. Topics: Adolescent; Adult; Athetosis; Cerebroside-Sulfatase; Chorea; Diagnosis, Differential; Dysarthria; Female; Homozygote; Humans; Leukodystrophy, Metachromatic; Male; Polymerase Chain Reaction; Sulfoglycosphingolipids	1991

Article

Year

Low arylsulphatase A activity and choreoathetotic syndrome in three siblings: differentiation of pseudodeficiency from metachromatic leukodystrophy.

European journal of pediatrics, 1991, Volume: 150, Issue:4

We report on a family with a sibship of three children for whom the diagnosis of "an unusual form of metachromatic leukodystrophy (MLD)" had been suggested earlier. The patients had choreiform movements and dystonic posturing accompanied by dysarthria since childhood. The availability of the polymerase chain reaction enabled us to show that the three siblings have a pseudodeficiency genotype (ASAp/ASAp). There was no abnormal sulphatiduria, and we propose that the neurological disease and low arylsulphatase A activity are unrelated to one another in this family. A diagnosis of MLD carries very serious implications, and we recommend that gene amplification by polymerase chain reaction and hybridization with allele-specific oligonucleotide probes should be used to corroborate the diagnosis, especially when there is no abnormal sulphatiduria and when metachromatic material cannot be demonstrated in a sural nerve biopsy.

Topics: Adolescent; Adult; Athetosis; Cerebroside-Sulfatase; Chorea; Diagnosis, Differential; Dysarthria; Female; Homozygote; Humans; Leukodystrophy, Metachromatic; Male; Polymerase Chain Reaction; Sulfoglycosphingolipids

1991