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A cognitive chameleon: Lessons from a novel MAPT mutation case

Research output: Contribution to journalArticle

Yuying Liang, Elizabeth Gordon, Jonathan Rohrer, Laura Downey, Rohan de Silva, Hans Rolf Jäger, Jennifer Nicholas, Marc Modat, M. Jorge Cardoso, Colin Mahoney, Jason Warren, Martin Rossor, Nick Fox, Diana Caine

Original languageEnglish
Pages (from-to)684-694
Number of pages11
Issue number6
Published1 Jan 2014

King's Authors

Research Groups

  • Imaging and Biomedical Engineering


We report a case of frontotemporal dementia caused by a novel MAPT mutation (Q351R) with a remarkably long amnestic presentation mimicking familial Alzheimer's disease. Longitudinal clinical, neuropsychological and imaging data provide convergent evidence for predominantly bilateral anterior medial temporal lobe involvement consistent with previously established neuroanatomical signatures of MAPT mutations. This case supports the notion that the neural network affected in MAPT mutations is determined to a large extent by the underlying molecular pathology. We discuss the diagnostic significance of anomia in the context of atypical amnesia and the impact of impaired episodic and semantic memory systems on autobiographical memory.

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