TDP-43 gene analysis in frontotemporal lobar degeneration.
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
Sara
S
Division of Regenerative Medicine, Department of Medicine, University of Manchester, Oxford Road, Manchester M13 9PT, UK.
Snowden
Julie S
JS
Neary
David
D
Morrison
Karen E
KE
Mann
David M A
DM
Pickering-Brown
Stuart M
SM
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D004252:DNA Mutational Analysis / Q000379:methods; D004268:DNA-Binding Proteins / Q000235:genetics*; D003704:Dementia / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006801:Humans; D008297:Male; D008875:Middle Aged
D004268:DNA-Binding Proteins