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Clinical symptoms of adult metachromatic leukodystrophy and arylsulfatase A pseudodeficiency.
- Source :
-
Archives of neurology [Arch Neurol] 1995 Apr; Vol. 52 (4), pp. 408-13. - Publication Year :
- 1995
-
Abstract
- Objective: To determine the clinical symptoms in adult metachromatic leukodystrophy and in adult pseudodeficiency for arylsulfatase A.<br />Design: Case series.<br />Setting: University hospital.<br />Patients: Twenty-five adult patients with very low arylsulfatase A activity.<br />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.<br />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.
Details
- Language :
- English
- ISSN :
- 0003-9942
- Volume :
- 52
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Archives of neurology
- Publication Type :
- Academic Journal
- Accession number :
- 7710377
- Full Text :
- https://doi.org/10.1001/archneur.1995.00540280098023