. Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia. Nat Neurosci. 2015 May;18(5):631-6. Epub 2015 Mar 24 PubMed.


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  1. Freischmidt et al. provide important new data on the role of TBK1 in familial ALS, complementing nicely the recent discovery of TBK1 in a cohort made up largely of patients with sporadic disease.

    The authors show an important link with FTD, which, if confirmed in larger samples, suggests that TBK1 mediates a specific form of ALS. There are also indications in the data that the primary mechanism of pathogenicity is haploinsufficiency, since it appears that many of the mutations are associated with reduced mRNA abundance, presumably due to nonsense mediated decay and reduced protein abundance. This is only the very beginning of our efforts to understand how TBK1 influences risk of disease, and what the precise clinical correlates are, but it is exciting to see new information coming out so soon after its first discovery in ALS.

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