| Leukodystrophies: classification, diagnosis, and treatment. | |
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MedLine Citation:
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PMID: 19901710 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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BACKGROUND: The leukodystrophies are a heterogeneous group of diseases, which primarily affect white matter. Symptomatic patients are frequently misdiagnosed and the leukodystrophies are collectively under recognized. However, with ongoing research and increased availability of neuroimaging, our understanding of these diseases is increasing at a steady rate. Recent advances in the diagnosis and treatment of certain forms of leukodystrophy should prompt increased awareness of these diseases in clinical practice. REVIEW SUMMARY: The clinical features, pathophysiology, and therapeutic approach to these diseases are described. Particular emphasis is placed on genetic and pathophysiologic mechanisms, imaging patterns, screening of other family members and, where available, treatment options and resources. CONCLUSIONS: With more widespread use of neuroimaging, both pediatric and adult neurologists will increasingly be confronted with white matter disorders. Neurologists should have an approach to the recognition, diagnosis, and management of white matter diseases in general and the leukodystrophies in specific. |
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Authors:
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Daniel J Costello; April F Eichler; Florian S Eichler |
Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural; Review |
Journal Detail:
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Title: The neurologist Volume: 15 ISSN: 1074-7931 ISO Abbreviation: Neurologist Publication Date: 2009 Nov |
Date Detail:
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Created Date: 2009-11-10 Completed Date: 2010-01-26 Revised Date: 2010-04-29 |
Medline Journal Info:
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Nlm Unique ID: 9503763 Medline TA: Neurologist Country: United States |
Other Details:
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Languages: eng Pagination: 319-28 Citation Subset: IM |
Affiliation:
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Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Age of Onset Diagnostic Imaging / methods Hereditary Central Nervous System Demyelinating Diseases* / classification, diagnosis, therapy Humans Nerve Fibers, Myelinated / pathology* |
| Grant Support | |
ID/Acronym/Agency:
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1K08N552550-01A1//PHS HHS |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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