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Arch Neurol. 1995 Apr;52(4):408-13.

Clinical symptoms of adult metachromatic leukodystrophy and arylsulfatase A pseudodeficiency.

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1
Department of Neurology, University Hospital Nijmegen, The Netherlands.

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.

[Indexed for MEDLINE]

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