A cognitive chameleon: lessons from a novel MAPT mutation case.

Liang, Yuying; Gordon, Elizabeth; Rohrer, Jonathan; Downey, Laura; de Silva, Rohan; Jäger, Hans Rolf; Nicholas, Jennifer; Modat, Marc; Cardoso, M Jorge; Mahoney, Colin; +4 more... Warren, Jason; Rossor, Martin; Fox, Nick; Caine, Diana; (2014) A cognitive chameleon: lessons from a novel MAPT mutation case. NEUROCASE, 20 (6). pp. 684-694. ISSN 1355-4794 DOI: https://doi.org/10.1080/13554794.2013.826697

Abstract

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.