| Concurrent amyotrophic lateral sclerosis and cystic fibrosis supports common pathways of pathogenesis. | |
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MedLine Citation:
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PMID: 23286748 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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We present a case of concurrent cystic fibrosis (CF) and amyotrophic lateral sclerosis (ALS). To our knowledge this is the first reported coincidence of these two diseases. Although TDP-43 dysfunction has been linked to both pathologies, it does not appear to be pivotal in this individual who does not display TDP-43 mediated aberrant splicing of the CFTR gene or carry a mutation in the TARDBP gene. Alternative reasons for the coincidence are discussed including medication, infection, hypoxia and loss of function of the CFTR channel. Our findings await validation by others, but as the prognosis of CF improves then clinicians in both fields should be aware of the possibilities highlighted by this case. |
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Authors:
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Christine Lo; Johnathan Cooper-Knock; Kate Garrard; Joanne Martindale; Timothy Williams; Pamela Shaw |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2013-1-4 |
Journal Detail:
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Title: Amyotrophic lateral sclerosis and frontotemporal degeneration Volume: - ISSN: 2167-9223 ISO Abbreviation: Amyotroph Lateral Scler Frontotemporal Degener Publication Date: 2013 Jan |
Date Detail:
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Created Date: 2013-1-4 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101587185 Medline TA: Amyotroph Lateral Scler Frontotemporal Degener Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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Academic Unit of Neurology, Sheffield Institute for Translational Neuroscience (SITraN) University of Sheffield , UK. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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