title: 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.
authors.affiliation: a Dementia Research Centre, Department of Neurodegenerative Diseases , UCL Institute of Neurology , London WC1N 3BG , UK.
authors.forename: Yuying
authors.initials: Y
authors.lastname: Liang
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Gordon
authors.forename: Jonathan
authors.initials: J
authors.lastname: Rohrer
authors.forename: Laura
authors.initials: L
authors.lastname: Downey
authors.forename: Rohan
authors.initials: R
authors.lastname: de Silva
authors.forename: Hans Rolf
authors.initials: HR
authors.lastname: Jäger
authors.forename: Jennifer
authors.initials: J
authors.lastname: Nicholas
authors.forename: Marc
authors.initials: M
authors.lastname: Modat
authors.forename: M Jorge
authors.initials: MJ
authors.lastname: Cardoso
authors.forename: Colin
authors.initials: C
authors.lastname: Mahoney
authors.forename: Jason
authors.initials: J
authors.lastname: Warren
authors.forename: Martin
authors.initials: M
authors.lastname: Rossor
authors.forename: Nick
authors.initials: N
authors.lastname: Fox
authors.forename: Diana
authors.initials: D
authors.lastname: Caine
mesh_terms: D000544:Alzheimer Disease / Q000175:diagnosis; D000647:Amnesia / Q000150:complications*; D000849:Anomia / Q000150:complications; D001921:Brain / Q000473:pathology; D018450:Disease Progression; D005260:Female; D057180:Frontotemporal Dementia / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D006624:Hippocampus / Q000473:pathology; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D016875:tau Proteins / Q000235:genetics*
chemical_list: C054369:MAPT protein, human; D016875:tau Proteins
keywords: Autobiographical memory; Brain networks; Episodic memory; Familial Alzheimer’s disease; Frontotemporal dementia; MAPT mutations; Semantic memory