| Serial MRI changes in a patient with infantile Alexander disease and prolonged survival. | |
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MedLine Citation:
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PMID: 21041050 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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Alexander disease is a major entity of leukodystrophy; magnetic resonance imaging (MRI) studies of the brain typically show extensive changes in the cerebral white matter with frontal predominance. Heterozygous missense mutations of GFAP are thought to be sufficient for the molecular diagnosis, which has widened the Alexander disease entity beyond the classical one. We report the patient, a 16-year-old Japanese boy, with infantile-onset Alexander disease, showing striking MRI findings; extreme white matter loss of cerebrum through cerebellum, severe atrophy of basal ganglia, cerebellum, brain stem, and cervical spinal cord. Molecular analysis showed a heterozygous mutation R239L (c.730G>T) in GFAP. A relative long disease course, over 15years, with the help of mechanical ventilation revealed the striking MRI progression. |
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Authors:
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Takashi Shiihara; Toru Yoneda; Ikuko Mizuta; Tomokatsu Yoshida; Masanori Nakagawa; Nobuzo Shimizu |
Publication Detail:
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Type: Journal Article Date: 2010-10-30 |
Journal Detail:
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Title: Brain & development Volume: 33 ISSN: 1872-7131 ISO Abbreviation: Brain Dev. Publication Date: 2011 Aug |
Date Detail:
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Created Date: 2011-07-04 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7909235 Medline TA: Brain Dev Country: Netherlands |
Other Details:
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Languages: eng Pagination: 604-7 Citation Subset: IM |
Copyright Information:
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Copyright © 2010 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved. |
Affiliation:
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Department of Neurology, Gunma Children's Medical Center, Gunma, Japan; Department of Pediatrics, Dokkyo Medical University, Saitama, Japan. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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