| Friedreich ataxia: neuropathology revised. | |
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MedLine Citation:
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PMID: 23334592 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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ABSTRACT: Friedreich ataxia is an autosomal recessive disorder that affects children and young adults. The mutation consists of a homozygous guanine-adenine-adenine trinucleotide repeat expansion that causes deficiency of frataxin, a small nuclear genome-encoded mitochondrial protein. Low frataxin levels lead to insufficient biosynthesis of iron-sulfur clusters that are required for mitochondrial electron transport and assembly of functional aconitase, and iron dysmetabolism of the entire cell. This review of the neuropathology of Friedreich ataxia stresses the critical role of hypoplasia and superimposed atrophy of dorsal root ganglia. Progressive destruction of dorsal root ganglia accounts for thinning of dorsal roots, degeneration of dorsal columns, transsynaptic atrophy of nerve cells in Clarke column and dorsal spinocerebellar fibers, atrophy of gracile and cuneate nuclei, and neuropathy of sensory nerves. The lesion of the dentate nucleus consists of progressive and selective atrophy of large glutamatergic neurons and grumose degeneration of corticonuclear synaptic terminals that contain γ-aminobutyric acid (GABA). Small GABA-ergic neurons and their projection fibers in the dentato-olivary tract survive. Atrophy of Betz cells and corticospinal tracts constitute a second intrinsic CNS lesion. In light of the selective vulnerability of organs and tissues to systemicfrataxin deficiency, many questions about the pathogenesis of Friedreich ataxia remain. |
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Authors:
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Arnulf H Koeppen; Joseph E Mazurkiewicz |
Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Journal of neuropathology and experimental neurology Volume: 72 ISSN: 1554-6578 ISO Abbreviation: J. Neuropathol. Exp. Neurol. Publication Date: 2013 Feb |
Date Detail:
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Created Date: 2013-01-21 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 2985192R Medline TA: J Neuropathol Exp Neurol Country: United States |
Other Details:
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Languages: eng Pagination: 78-90 Citation Subset: IM |
Affiliation:
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From the Research Service, Veterans Affairs Medical Center, Albany, New York (AHK); Departments of Neurology and Pathology, Albany Medical College, Albany, New York (AHK); and Center for Neuropharmacology and Neuroscience, Albany Medical College, Albany, New York (JEM). |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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