Clinical symptoms of adult metachromatic leukodystrophy and arylsulfatase A pseudodeficiency

Arch Neurol. 1995 Apr;52(4):408-13. doi: 10.1001/archneur.1995.00540280098023.


Objective: To determine the clinical symptoms in adult metachromatic leukodystrophy and in adult pseudodeficiency for arylsulfatase A.

Design: Case series.

Setting: University hospital.

Patients: 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.

MeSH terms

  • Adolescent
  • Adult
  • Ataxia / metabolism
  • Cerebroside-Sulfatase / deficiency*
  • Female
  • Humans
  • Leukodystrophy, Metachromatic / metabolism*
  • Leukodystrophy, Metachromatic / physiopathology
  • Male
  • Mental Disorders / metabolism
  • Neural Conduction
  • Peripheral Nervous System Diseases / metabolism


  • Cerebroside-Sulfatase