Clinical Symptoms of Adult Metachromatic Leukodystrophy and Arylsulfatase A Pseudodeficiency
A. T. M. Hageman, MD;
F. J. M. Gabreëls, MD;
J. G. N. de Jong, MD;
A. A. W. M. Gabreëls-Festen, MD;
C. J. M. G. van den Berg, MD;
B. A. van Oost, MD;
R. A. Wevers, MD
Arch Neurol. 1995;52(4):408-413.
Abstract
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.
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).
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