title: [Molecular analysis of Japanese patients with metachromatic leukodystrophy].
abstract: Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder caused by a deficiency of arylsulfatase A (ASA). Three forms of the disease can be distinguished according to the age at onset: late-infantile, juvenile and adult. To investigate the molecular basis of Japanese patients with MLD, we examined ten Japanese patients for the presence of three known ASA mutations. The results indicate quite different distribution of these mutations between Caucasian and Japanese patients with MLD. We have performed further analysis on ASA gene of Japanese MLD patients, and identified two new mutations. Phenotype-genotype relationship in Japanese patients with MLD is discussed.
authors.affiliation: Department of Pediatrics, Jikei University School of Medicine.
authors.forename: Y
authors.initials: Y
authors.lastname: Hasegawa
authors.forename: H
authors.initials: H
authors.lastname: Kawame
authors.forename: Y
authors.initials: Y
authors.lastname: Eto
mesh_terms: D017668:Age of Onset; D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002553:Cerebroside-Sulfatase / Q000235:genetics*; D004247:DNA; D005838:Genotype; D006801:Humans; D007564:Japan; D007966:Leukodystrophy, Metachromatic / Q000145:classification / Q000209:etiology / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D010641:Phenotype
chemical_list: D004247:DNA; D002553:Cerebroside-Sulfatase