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Strategies for treatment in Alexander disease.

Abstract
Alexander disease is a rare and generally fatal disorder of the CNS, originally classified among the leukodystrophies because of the prominent myelin deficits found in young patients. The most common form of this disease affects infants, who often have profound mental retardation and a variety of developmental delays, but later onset forms also occur, sometimes with little or no white matter pathology at all. The pathological hallmark of Alexander disease is the inclusion body, known as Rosenthal fiber, within the cell bodies and processes of astrocytes. Recent genetic studies identified heterozygous missense mutations in glial fibrillary acidic protein (GFAP), the major intermediate filament protein in astrocytes, as the cause of nearly all cases of Alexander disease. These studies have transformed our view of this disorder and opened new directions for investigation and clinical practice, particularly with respect to diagnosis. Mechanisms by which expression of mutant forms of glial fibrillary acidic protein (GFAP) lead to the pleiotropic manifestations of disease (afflicting cell types beyond the ones expressing the mutant gene) are slowly coming into focus. Ideas are beginning to emerge that suggest several compelling therapeutic targets for interventions that might slow or arrest the evolution of the disease. This review will outline the rationale for pursuing these strategies, and highlight some of the critical issues that must be addressed in the planning of future clinical trials.
AuthorsAlbee Messing, Christine M LaPash Daniels, Tracy L Hagemann
JournalNeurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics (Neurotherapeutics) Vol. 7 Issue 4 Pg. 507-15 (Oct 2010) ISSN: 1878-7479 [Electronic] United States
PMID20880512 (Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Review)
CopyrightCopyright © 2010 The American Society for Experimental NeuroTherapeutics, Inc. Published by Elsevier Inc. All rights reserved.
Chemical References
  • Amino Acid Transport System X-AG
  • Glial Fibrillary Acidic Protein
  • NTSR2 protein, human
  • Receptors, Neurotensin
  • alpha-Crystallins
Topics
  • Alexander Disease (pathology, therapy)
  • Amino Acid Transport System X-AG (metabolism)
  • Animals
  • Astrocytes (pathology, physiology)
  • Glial Fibrillary Acidic Protein (metabolism)
  • Humans
  • Receptors, Neurotensin (metabolism)
  • alpha-Crystallins (metabolism)

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