CLINICAL SYMPTOMS OF ADULT METACHROMATIC LEUKODYSTROPHY AND ARYLSULFATASE-A PSEUDODEFICIENCY

Objective: To determine the clinical symptoms in adult metachromatic l eukodystrophy and in adult pseudodeficiency for arylsulfatase A. Desig n: Case series. Setting: University hospital. Patients: Twenty-five ad ult patients with very low arylsulfatase A activity. Results: In 13 pa tients, a diagnosis of adult metachromatic leukodystrophy was made. Th e main symptoms were dementia, behavioral abnormalities, ataxia, and p olyneuropathy. In 12 patients, a diagnosis of arylsulfatase A pseudode ficiency was made. No characteristic clinical syndrome could be detect ed in these patients. Conclusions: Adult metachromatic leukodystrophy is a progressive metabolic disease with symptoms of demyelination of t he central and peripheral nervous systems. Diagnosis must be confirmed by determination of arylsulfatase A activity and accumulation of sulf atides. Pseudodeficiency for arylsulfatase A can be confirmed or exclu ded by means of DNA analysis.