title: A variant form of metachromatic leucodystrophy in a patient suffering from another congenital degenerative neurological disease.
abstract: A woman aged 21 with a variant form of metachromatic leucodystrophy (MLD) combined with another form of leucodystrophy is described. The clinical symptoms were retinitis pigmentosa and progressive neurological deficits such as mental retardation, dystonia, pyramidal tract involvement and peripheral neuropathy. The biochemical findings were marked deficiency of arylsulfatase-A and cerebroside-sulfatase in cultured fibroblasts and excretion of sulfatides in the urine. Sulfatide-loading of cultured fibroblasts showed almost normal uptake and degradation of sulfatides. The patient's sister suffers from a clinically similar neurological disease, but normal activity of arylsulfatase-A was found in her leucocytes. A severe oral-facial dystonia in the patient was successfully controlled by l-dopa.
authors.forename: A M
authors.initials: AM
authors.lastname: Nordenbo
authors.forename: T
authors.initials: T
authors.lastname: Tønnesen
mesh_terms: D000328:Adult; D002493:Central Nervous System Diseases / Q000235:genetics*; D002553:Cerebroside-Sulfatase / Q000172:deficiency; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007962:Leukocytes / Q000201:enzymology; D007966:Leukodystrophy, Metachromatic / Q000235:genetics*; D009410:Nerve Degeneration; D009468:Neuromuscular Diseases / Q000235:genetics; D012174:Retinitis Pigmentosa / Q000235:genetics; D013433:Sulfoglycosphingolipids / Q000652:urine
chemical_list: D013433:Sulfoglycosphingolipids; D002553:Cerebroside-Sulfatase