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Neurobiol Aging. 2009 Aug;30(8):1329-31. Epub 2008 Jan 10.

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

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Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Belgium.


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.

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