Clinical symptoms of adult metachromatic leukodystrophy and arylsulfatase A pseudodeficiency.
OBJECTIVE
To determine the clinical symptoms in adult metachromatic leukodystrophy and in adult pseudodeficiency for arylsulfatase A.


METHODS
Case series.


METHODS
University hospital.


METHODS
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.
Hageman
A T
AT
Department of Neurology, University Hospital Nijmegen, The Netherlands.
Gabreëls
F J
FJ
de Jong
J G
JG
Gabreëls-Festen
A A
AA
van den Berg
C J
CJ
van Oost
B A
BA
Wevers
R A
RA
D000293:Adolescent; D000328:Adult; D001259:Ataxia / Q000378:metabolism; D002553:Cerebroside-Sulfatase / Q000172:deficiency*; D005260:Female; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000378:metabolism* / Q000503:physiopathology; D008297:Male; D001523:Mental Disorders / Q000378:metabolism; D009431:Neural Conduction; D010523:Peripheral Nervous System Diseases / Q000378:metabolism
D002553:Cerebroside-Sulfatase