Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS

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• 作者：Ilse Gijselinck ; Kristel Sleegers ; Sebastiaan Engelborghs ; Wim Robberecht ; Jean-Jacques Martin ; Rik V ; enberghe ; Raf Sciot ; Bart Dermaut ; Dirk Goossens ; Julie van der Zee ; Tim De Pooter ; Jurgen Del-Fav
• 关键词：TDP-43 ; TARDBP ; Frontotemporal dementia ; Amyotrophic lateral sclerosis ; Genetics
• 刊名：Neurobiology of Aging
• 出版年：2009
• 出版时间：August 2009
• 年：2009
• 卷：30
• 期：8
• 页码：1329-1331
• 全文大小：84 K

文摘

The nuclear TAR DNA binding protein (TDP-43) is deposited in ubiquitin-positive inclusions in frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), two clinicopathologically overlapping neurodegenerative diseases. In this study we excluded mutations and copy number variations in the gene encoding TDP-43 (TARDBP) from an extended series of 173 FTD and 237 ALS patients. Further, we did not identify association of common genetic variants in these patients. Our data implicate that TDP-43 has no primary genetic role in the pathophysiological mechanisms underlying central nervous system neurodegeneration in these diseases.