| Abnormal myelination in Angelman syndrome. | |
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MedLine Citation:
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PMID: 18573670 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Patients with Angelman syndrome (OMIM # 105830) are generally thought to have normal brain imaging studies except for occasional minor cerebral atrophy. We report 9 patients with genetically proven Angelman syndrome, who were examined by magnetic resonance imaging (MRI) between the ages of 7.5 months and 5 years. MRI in the 5 patients examined during infancy revealed myelination delay and a deficit of white matter. Retarded and/or abnormal myelination in Angelman syndrome seems to be a common finding that may be diagnostically misleading. This is particularly important in the evaluation of infants with possible Angelman syndrome, who present with nonspecific clinical features and have not yet developed the characteristic behavioural, language, and movement abnormalities. |
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Authors:
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Inga Harting; Angelika Seitz; Dietz Rating; Klaus Sartor; Johannes Zschocke; Bart Janssen; Friedrich Ebinger; Nicole I Wolf |
Publication Detail:
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Type: Journal Article Date: 2008-06-24 |
Journal Detail:
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Title: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society Volume: 13 ISSN: 1532-2130 ISO Abbreviation: Eur. J. Paediatr. Neurol. Publication Date: 2009 May |
Date Detail:
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Created Date: 2009-04-17 Completed Date: 2009-07-01 Revised Date: 2010-04-16 |
Medline Journal Info:
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Nlm Unique ID: 9715169 Medline TA: Eur J Paediatr Neurol Country: England |
Other Details:
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Languages: eng Pagination: 271-6 Citation Subset: IM |
Affiliation:
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Department of Neuroradiology, University Hospital Heidelberg, Germany. inga.harting@med.uni-heidelberg.de |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Angelman Syndrome
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diagnosis,
pathology* Brain / pathology* Child, Preschool Developmental Disabilities / diagnosis, pathology* Female Humans Image Processing, Computer-Assisted Infant Magnetic Resonance Imaging Male Nerve Fibers, Myelinated / pathology* Retrospective Studies |
| Comments/Corrections | |
Comment In:
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Eur J Paediatr Neurol. 2010 May;14(3):292
[PMID:
19720548
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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