| Alexander's disease: reassessment of a neonatal form. | |
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MedLine Citation:
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PMID: 22890470 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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INTRODUCTION: Alexander disease is a disorder caused by a mutation and accumulation of the glial fibrillary acidic protein. Currently, three subtypes are acknowledged: an infantile, a juvenile, and an adult form. However, onset early in infancy or in the prenatal period has been shown to present with a uniform pattern of symptoms-suggesting the presence of a distinct neonatal form of the disease. RESULTS AND DISCUSSION: Though the neonatal form of Alexander disease is not well acknowledged, a uniform and distinct presentation of the disease in neonates has been observed, suggesting the need for a different course of identification and treatment. Clinical presentation of the neonatal form is distinguished by leukodystrophy and generalized, frequent, and intractable seizures. While the infantile form presents with ataxia, hyperreflexia, and other upper motor neuron symptoms, none of these has been observed in the neonatal form. In the diagnosis of neonatal Alexander disease, it is essential to rule out other causes of leukodystrophy and the presence of neoplasms. |
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Authors:
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Navneet Singh; Catherine Bixby; Denzil Etienne; R Shane Tubbs; Marios Loukas |
Publication Detail:
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Type: JOURNAL ARTICLE Date: 2012-8-14 |
Journal Detail:
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Title: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery Volume: - ISSN: 1433-0350 ISO Abbreviation: Childs Nerv Syst Publication Date: 2012 Aug |
Date Detail:
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Created Date: 2012-8-14 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8503227 Medline TA: Childs Nerv Syst Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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Department of Anatomical Sciences, School of Medicine, St George's University, West Indies, Grenada. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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