期刊
NEUROBIOLOGY OF AGING
卷 30, 期 3, 页码 388-393出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.neurobiolaging.2007.07.013
关键词
Tau; Alzheimer; Tauopathy; Exon 10
资金
- NIH
- NIA
- PHS [P50 AG05128]
- Reta Lila Weston Trust for Medical Research
- MRC [G0501560]
- Alzheimers Research UK [ART-PhD2007-2] Funding Source: researchfish
- Medical Research Council [G0501560, G0701075] Funding Source: researchfish
- MRC [G0501560, G0701075] Funding Source: UKRI
We identified a case of Alzheimer's disease with a deletion of the lysine residue at codon 280 (Delta K280) in exon 10-encoded microtubule-binding repeat domain of the tau gene (MAPT). This mutation was originally identified in a sporadic case of frontotemporal dementia (FTD) with a family history of Parkinson's disease. In the original report, the authors were careful in their assessment of the pathogenicity and suggested one could not be sure whether the mutation was pathogenic or not. The mutation has always presented a conundrum because it is the only known mutation, of assumed pathogenicity, which increases the proportion of 3-repeat tau mRNA in in vitro assays. Here we present the clinical and pathological features of a new case with this mutation and discuss whether the mutation is indeed pathogenic. (C) 2007 Elsevier Inc. All rights reserved.
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