| 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 |
Related Documents
:
|
20139404 - Midazolam or diazepam administration during electroencephalography helps to diagnose su... 4072614 - Electrophysiological study in patients with chronic hepatic insufficiency. 20021774 - Complexity loss in physiological time series of patients in a vegetative state. 11442624 - Neglected microcystic adnexal carcinoma: the second reported case in a black patient. 2289214 - The effect of ranitidine on cellular immunity in patients with multiple myeloma. 1154984 - Late occurrence of precancerous changes and carcinoma of the gastric stump after billro... |
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 |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| 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
Previous Document: Subcutaneous dirofilariasis in Nebraska.
Next Document: Identification of carcinoembryonic antigen in the C-cell of the normal thyroid.