Document Detail


Juvenile metachromatic leukodystrophy. Clinical, biochemical, and neuropathologic studies in nine new cases.
MedLine Citation:
PMID:  6101304     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We describe nine patients with metachromatic leukodystrophy. Seven patients had the juvenile form; in two others, the age at onset was 1 year, but the clinical course was different from the late infantile form. The age at onset ranged from 1 to 18 years; the duration ranged from three to 17 years. Mental retardation associated with motor impairment and pathological EEG and electromyographic findings were the main clinical findings. In patients with early onset, mental retardation was almost the only symptom for the first ten years. Segmental demyelination, remyelination, onion bulb formation, and occasional perivascular macrophages containing metachromatic lipid were the main findings in sural nerves studied after biopsy. The mean arylsulfatase-A (ASA) activity was 1.3 nmoles of nitrocatechol sulfate per milligram of protein per 30 minutes in peripheral leukocytes of the patients, 62.0 in the heterozygotes, and 139.0 in the controls. The ASA band could not be detected in enzyme electrophoresis.
Authors:
T Haltia; J Palo; M Haltia; A Icén
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Archives of neurology     Volume:  37     ISSN:  0003-9942     ISO Abbreviation:  Arch. Neurol.     Publication Date:  1980 Jan 
Date Detail:
Created Date:  1980-02-26     Completed Date:  1980-02-26     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0372436     Medline TA:  Arch Neurol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  42-6     Citation Subset:  AIM; IM    
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Axons / ultrastructure
Biopsy
Brain / pathology
Cerebroside-Sulfatase / metabolism
Child
Child Development
Electroencephalography
Female
Heterozygote
Humans
Leukocytes / enzymology
Leukodystrophy, Metachromatic / diagnosis*,  enzymology,  genetics
Male
Mental Retardation / enzymology
Myelin Sheath / ultrastructure
Sural Nerve / pathology
Chemical
Reg. No./Substance:
EC 3.1.6.8/Cerebroside-Sulfatase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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