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. 2007 May 23;419(1):1-4.
doi: 10.1016/j.neulet.2007.03.044. Epub 2007 Mar 24.

TDP-43 gene analysis in frontotemporal lobar degeneration

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TDP-43 gene analysis in frontotemporal lobar degeneration

Sara Rollinson et al. Neurosci Lett. .

Abstract

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.

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