Document Detail


Concurrent amyotrophic lateral sclerosis and cystic fibrosis supports common pathways of pathogenesis.
MedLine Citation:
PMID:  23286748     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Abstract 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.
Authors:
Christine Lo; Johnathan Cooper-Knock; Kate Garrard; Joanne Martindale; Timothy Williams; Pamela Shaw
Publication Detail:
Type:  Case Reports; Journal Article     Date:  2013-01-04
Journal Detail:
Title:  Amyotrophic lateral sclerosis & frontotemporal degeneration     Volume:  14     ISSN:  2167-9223     ISO Abbreviation:  Amyotroph Lateral Scler Frontotemporal Degener     Publication Date:  2013 Sep 
Date Detail:
Created Date:  2013-08-07     Completed Date:  2013-10-17     Revised Date:  2014-02-20    
Medline Journal Info:
Nlm Unique ID:  101587185     Medline TA:  Amyotroph Lateral Scler Frontotemporal Degener     Country:  England    
Other Details:
Languages:  eng     Pagination:  473-5     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Adult
Amyotrophic Lateral Sclerosis / complications*,  genetics
Cystic Fibrosis / complications*,  genetics
Cystic Fibrosis Transmembrane Conductance Regulator / genetics,  metabolism
DNA-Binding Proteins / genetics,  physiology
Female
Humans
Mutation
Peptide Fragments / genetics,  metabolism
RNA Splicing
Grant Support
ID/Acronym/Agency:
MR/K003771/1//Medical Research Council
Chemical
Reg. No./Substance:
0/DNA-Binding Proteins; 0/Peptide Fragments; 0/protein TDP-43; 126880-72-6/Cystic Fibrosis Transmembrane Conductance Regulator; 146289-28-3/cystic fibrosis transmembrane conductance regulator (505-511)

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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