CLINICAL SYMPTOMS OF ADULT METACHROMATIC LEUKODYSTROPHY AND ARYLSULFATASE-A PSEUDODEFICIENCY

被引:40
作者
HAGEMAN, ATM
GABREELS, FJM
DEJONG, JGN
GABREELSFESTEN, AAWM
VANDENBERG, CJMG
VANOOST, BA
WEVERS, RA
机构
[1] UNIV NIJMEGEN HOSP,DEPT NEUROL,6500 HB NIJMEGEN,NETHERLANDS
[2] UNIV NIJMEGEN HOSP,DEPT HUMAN GENET,6500 HB NIJMEGEN,NETHERLANDS
关键词
D O I
10.1001/archneur.1995.00540280098023
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
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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页码:408 / 413
页数:6
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