| Phenotype of arylsulfatase A-deficient mice: relationship to human metachromatic leukodystrophy. | |
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MedLine Citation:
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PMID: 8962139 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Metachromatic leukodystrophy is a lysosomal sphingolipid storage disorder caused by the deficiency of arylsulfatase A. The disease is characterized by progressive demyelination, causing various neurologic symptoms. Since no naturally occurring animal model of the disease is available, we have generated arylsulfatase A-deficient mice. Deficient animals store the sphingolipid cerebroside-3-sulfate in various neuronal and nonneuronal tissues. The storage pattern is comparable to that of affected humans, but gross defects of white matter were not observed up to the age of 2 years. A reduction of axonal cross-sectional area and an astrogliosis were observed in 1-year-old mice; activation of microglia started at 1 year and was generalized at 2 years. Purkinje cell dendrites show an altered morphology. In the acoustic ganglion numbers of neurons and myelinated fibers are severely decreased, which is accompanied by a loss of brainstem auditory-evoked potentials. Neurologic examination reveals significant impairment of neuromotor coordination. |
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Authors:
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B Hess; P Saftig; D Hartmann; R Coenen; R Lüllmann-Rauch; H H Goebel; M Evers; K von Figura; R D'Hooge; G Nagels; P De Deyn; C Peters; V Gieselmann |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Proceedings of the National Academy of Sciences of the United States of America Volume: 93 ISSN: 0027-8424 ISO Abbreviation: Proc. Natl. Acad. Sci. U.S.A. Publication Date: 1996 Dec |
Date Detail:
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Created Date: 1997-01-15 Completed Date: 1997-01-15 Revised Date: 2013-04-17 |
Medline Journal Info:
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Nlm Unique ID: 7505876 Medline TA: Proc Natl Acad Sci U S A Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 14821-6 Citation Subset: IM |
Affiliation:
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Institut für Biochemie II, Georg-August-Universität Göttingen, Federal Republic of Germany. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Animals Cerebroside-Sulfatase / deficiency* Disease Models, Animal Humans Leukodystrophy, Metachromatic* / enzymology Mice Phenotype |
| Chemical | |
Reg. No./Substance:
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EC 3.1.6.8/Cerebroside-Sulfatase |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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