TDP-43 gene analysis in frontotemporal lobar degeneration

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• 作者：Sara Rollinson ; Julie S. Snowden ; David Neary ; Karen E. Morrison ; David M.A. Mann ; Stuart M. Pickering-Brown
• 关键词：TDP-43 ; Frontotemporal lobar degeneration ; FTLD ; Genetic association ; PGRN
• 刊名：Neuroscience Letters
• 出版年：2007
• 出版时间：23 May 2007
• 年：2007
• 卷：419
• 期：1
• 页码：1-4
• 全文大小：106 K

文摘

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.