title: Clinical symptoms of adult metachromatic leukodystrophy and arylsulfatase A pseudodeficiency.
abstract: OBJECTIVE
  To determine the clinical symptoms in adult metachromatic leukodystrophy and in adult pseudodeficiency for arylsulfatase A.
  
  
  METHODS
  Case series.
  
  
  METHODS
  University hospital.
  
  
  METHODS
  Twenty-five adult patients with very low arylsulfatase A activity.
  
  
  RESULTS
  In 13 patients, a diagnosis of adult metachromatic leukodystrophy was made. The main symptoms were dementia, behavioral abnormalities, ataxia, and polyneuropathy. In 12 patients, a diagnosis of arylsulfatase A pseudodeficiency was made. No characteristic clinical syndrome could be detected in these patients.
  
  
  CONCLUSIONS
  Adult metachromatic leukodystrophy is a progressive metabolic disease with symptoms of demyelination of the central and peripheral nervous systems. Diagnosis must be confirmed by determination of arylsulfatase A activity and accumulation of sulfatides. Pseudodeficiency for arylsulfatase A can be confirmed or excluded by means of DNA analysis.
authors.affiliation: Department of Neurology, University Hospital Nijmegen, The Netherlands.
authors.forename: A T
authors.initials: AT
authors.lastname: Hageman
authors.forename: F J
authors.initials: FJ
authors.lastname: Gabreëls
authors.forename: J G
authors.initials: JG
authors.lastname: de Jong
authors.forename: A A
authors.initials: AA
authors.lastname: Gabreëls-Festen
authors.forename: C J
authors.initials: CJ
authors.lastname: van den Berg
authors.forename: B A
authors.initials: BA
authors.lastname: van Oost
authors.forename: R A
authors.initials: RA
authors.lastname: Wevers
mesh_terms: D000293:Adolescent; D000328:Adult; D001259:Ataxia / Q000378:metabolism; D002553:Cerebroside-Sulfatase / Q000172:deficiency*; D005260:Female; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000378:metabolism* / Q000503:physiopathology; D008297:Male; D001523:Mental Disorders / Q000378:metabolism; D009431:Neural Conduction; D010523:Peripheral Nervous System Diseases / Q000378:metabolism
chemical_list: D002553:Cerebroside-Sulfatase