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April 1995

Clinical Symptoms of Adult Metachromatic Leukodystrophy and Arylsulfatase A Pseudodeficiency

Author Affiliations

From the Departments of Neurology (Drs Hageman, Gabreëls, de Jong, Gabreëls-Festen, van den Berg, and Wevers) and Human Genetics (Dr van Oost), University Hospital Nijmegen (the Netherlands).

Arch Neurol. 1995;52(4):408-413. 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.

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