| Amyotrophic lateral sclerosis in a patient with Kartagener syndrome. | |
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MedLine Citation:
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PMID: 20550487 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We present a case of a patient with clinically definite ALS, who had earlier suffered from Kartagener syndrome, which is characterized by the triad comprising chronic sinusitis, bronchiectasis, and situs inversus. Recent linkage and mutational analyses identified several genes that are responsible for Kartagener syndrome. Most of them encode subunits of axonemal dyneins, highlighting the importance of dynein motors to ciliary motility. Recent data indicate that defects in cytoplasmic dynein-mediated retrograde axonal transport are involved in the etiology of ALS. Genes encoding the dynein heavy chain of cytoplasmic and outer arm axonemal dyneins are reported to have similar sequences in their central and 3'-end regions. Although a causal link between ALS and Kartagener syndrome has not yet been definitely established, the precise relationship between disrupted axonemal dynein function in Kartagener syndrome and motor neuron death should be investigated. |
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Authors:
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Satoshi Yamashita; Akie Migita; Kenyu Hayashi; Tomoo Hirahara; En Kimura; Yasushi Maeda; Teruyuki Hirano; Makoto Uchino |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases Volume: 11 ISSN: 1471-180X ISO Abbreviation: Amyotroph Lateral Scler Publication Date: 2010 Aug |
Date Detail:
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Created Date: 2010-06-16 Completed Date: 2010-09-23 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101283386 Medline TA: Amyotroph Lateral Scler Country: England |
Other Details:
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Languages: eng Pagination: 402-4 Citation Subset: IM |
Affiliation:
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Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Honjo, Japan. y-stsh@kumamoto-u.ac.jp |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abdomen
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pathology Amyotrophic Lateral Sclerosis / complications*, radiography Brain / pathology Female Humans Japan Kartagener Syndrome / complications*, radiography Liver / pathology Magnetic Resonance Imaging / methods Middle Aged Thorax / pathology Tomography, X-Ray Computed / methods |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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