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

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.

journal_name

Neurocase

journal_title

Neurocase

authors

Liang Y,Gordon E,Rohrer J,Downey L,de Silva R,Jäger HR,Nicholas J,Modat M,Cardoso MJ,Mahoney C,Warren J,Rossor M,Fox N,Caine D

doi

10.1080/13554794.2013.826697

subject

Has Abstract

pub_date

2014-01-01 00:00:00

pages

684-94

issue

6

eissn

1355-4794

issn

1465-3656

journal_volume

20

pub_type

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