It has recently been established that the ubiquitinated neuronal inclusions and neurites observed in frontotemporal lobar degeneration (FTLD) contain the TAR DNA-binding protein, TDP-43. It is not uncommon for genetic variation of genes that encode proteins that accumulate in neurodegenerative conditions to increase risk for disease. We therefore examined whether variation of the TDP-43 locus was associated with an increased risk of disease in the Manchester FTLD cohort. We found no evidence of TDP-43 variation increasing risk for FTLD in this cohort. These data suggest that TDP-43 accumulation is a consequence of the disease process underlying FTLD.
Rollinson, S., Snowden, J. S., Neary, D., Morrison, K. E., Mann, D. M. A., & Pickering-Brown, S. M. (2007). TDP-43 gene analysis in frontotemporal lobar degeneration. Neuroscience Letters, 419(1), 1-4. https://doi.org/10.1016/j.neulet.2007.03.044