Article
Concurrent amyotrophic lateral sclerosis and cystic fibrosis supports common pathways of pathogenesis.
Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Sept 2013
Lo Christine, Cooper-Knock Johnathan, Garrard Kate, Martindale Joanne, Williams Timothy, Shaw Pamela
Abstract excerpt
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....
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