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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.
Highlights
Frontotemporal dementia (FTD) is a common cause of young onset dementia (Harvey, SkeltonRobinson, & Rossor, 2003; Ratnavalli, Brayne, Dawson, & Hodges, 2002)
The clinical impression that depression was a significant contributor to her cognitive complaints was revised 2 years later when, at the age of 51 years old, CW’s memory had deteriorated significantly and she had had to give up work
We report a novel MAPT mutation case in exon 12 with a predominantly amnestic presentation masquerading as Alzheimer’s disease (AD) initially
Summary
CW (initials changed to preserve anonymity) is a right-handed lady who was born at term and reached normal developmental milestones She completed a university degree and worked at a relatively senior level in the public sector. Confrontation naming was poor (graded naming test (GNT): 5th percentile; Oldfield naming test: 25–50th percentile) (McKenna & Warrington, 1983; Oldfield & Wingfield, 1965) which, together with slightly reduced category fluency (animal names: 25th percentile) (Spreen & Strauss, 1998), hinted at early semantic impairment, especially in comparison with preserved phonemic fluency (“s”: >90th percentile) (Spreen & Strauss, 1998) The latter indicated preserved executive function as did sound cognitive estimates (50th percentile) (Shallice & Evans, 1978).
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