Faculty Opinions recommendation of TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis.

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Abstract
The causes of amyotrophic lateral sclerosis (ALS) are largely unknown, but significant advances have been made in understanding genetic components of the disease. This study confirmed previous findings that TARDBP is linked to ALS {1}. TARDBP codes for TDP-43, a protein regulating RNA expression and the major component of intracellular inclusions in ALS. The discovery of ALS-linked mutations in this gene was the first of many showing RNA processing defects to be important in ALS pathogenesis and, importantly, showed that the TDP-43 inclusions were not simply a passive marker of neuronal death but a crucial part of the disease pathway. This Recommendation is of an article referenced in an F1000 Faculty Review also written by Sarah Martin, Ahmad Al Khleifat, and Ammar Al-Chalabi.

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