A cognitive chameleon: Lessons from a novel MAPT mutation case

被引：12

作者：

Liang, Yuying ^{[1
]}

Gordon, Elizabeth ^{[1
]}

Rohrer, Jonathan ^{[1
]}

Downey, Laura ^{[1
]}

de Silva, Rohan ^{[2
]}

Jaeger, Hans Rolf ^{[3
]}

Nicholas, Jennifer ^{[1
,4
]}

Modat, Marc ^{[1
,5
]}

Cardoso, M. Jorge ^{[1
,5
]}

Mahoney, Colin ^{[1
]}

Warren, Jason ^{[1
]}

Rossor, Martin ^{[1
]}

Fox, Nick ^{[1
]}

Caine, Diana ^{[6
]}

机构：

[1] UCL Inst Neurol, Dementia Res Ctr, Dept Neurodegenerat Dis, London WC1N 3BG, England

[2] UCL Inst Neurol, Dept Mol Neurosci, Reta Lila Weston Inst, London WC1N 1PJ, England

[3] Natl Hosp Neurol & Neurosurg, Lysholm Dept Neuroradiol, London WC1N 3BG, England

[4] Univ London London Sch Hyg & Trop Med, Dept Med Stat, London WC1E 7HT, England

[5] UCL, Ctr Med Image Comp, London WC1E 6BT, England

[6] Natl Hosp Neurol & Neurosurg, Dept Neuropsychol, London WC1N 3BG, England

来源：

NEUROCASE | 2014年 / 20卷 / 06期

关键词：

Episodic memory; Semantic memory; Familial Alzheimer's disease; MAPT mutations; Frontotemporal dementia; Autobiographical memory; Brain networks; FRONTOTEMPORAL LOBAR DEGENERATION; TAU GENE-MUTATIONS; AUTOBIOGRAPHICAL MEMORY; ALZHEIMERS-DISEASE; SEMANTIC DEMENTIA; AMNESIC PATIENTS; P301L MUTATION; VOLUME CHANGES; TEMPORAL-LOBE; PATTERNS;

D O I：

10.1080/13554794.2013.826697

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：684 / 694

页数：11

共 62 条

[31] Mutation negative "Early-onset Familial Alzheimer Disease": Consider screening for tau gene mutations [J].

Larner, Andrew J. .

ALZHEIMER DISEASE & ASSOCIATED DISORDERS, 2008, 22 (02) :194-195

[32] Automated cross-sectional and longitudinal hippocampal volume measurement in mild cognitive impairment and Alzheimer's disease [J].

Leung, Kelvin K. ;

Barnes, Josephine ;

Ridgway, Gerard R. ;

Bartlett, Jonathan W. ;

Clarkson, Matthew J. ;

Macdonald, Kate ;

Schuff, Norbert ;

Fox, Nick C. ;

Ourselin, Sebastien .

NEUROIMAGE, 2010, 51 (04) :1345-1359

[33] Robust atrophy rate measurement in Alzheimer's disease using multi-site serial MRI: Tissue-specific intensity normalization and parameter selection [J].

Leung, Kelvin K. ;

Clarkson, Matthew J. ;

Bartlett, Jonathan W. ;

Clegg, Shona ;

Jack, Clifford R., Jr. ;

Weiner, Michael W. ;

Fox, Nick C. ;

Ourselin, Sebastien .

NEUROIMAGE, 2010, 50 (02) :516-523

[34] Impairment of episodic and semantic autobiographical memory in patients with mild cognitive impairment and early Alzheimer's disease [J].

Leyhe, Thomas ;

Mueller, Stephan ;

Milian, Monika ;

Eschweiler, Gerhard W. ;

Saur, Ralf .

NEUROPSYCHOLOGIA, 2009, 47 (12) :2464-2469

[35] Retrieval mechanisms for autobiographical memories:: Insights from the frontal variant of frontotemporal dementia [J].

Matuszewski, Vanessa ;

Piolino, Pascale ;

de la Sayette, Vincent ;

Lalevee, Catherine ;

Pelerin, Alice ;

Dupuy, Benoit ;

Viader, Fausto ;

Eustache, Francis ;

Desgranges, Beatrice .

NEUROPSYCHOLOGIA, 2006, 44 (12) :2386-2397

[36] Patterns of autobiographical memory impairment according to disease severity in semantic dementia [J].

Matuszewski, Vanessa ;

Piolino, Pascale ;

Belliard, Serge ;

de la Sayette, Vincent ;

Laisney, Mickael ;

Lalevee, Catherine ;

Pelerin, Alice ;

Viader, Fausto ;

Eustache, Francis ;

Desgranges, Beatrice .

CORTEX, 2009, 45 (04) :456-472

[37] Defining Neurocognitive Networks in the BOLD New World of Computed Connectivity [J].

Mesulam, Marsel .

NEURON, 2009, 62 (01) :1-3

[38] Tau pathology in a family with dementia and a P301L mutation in tau [J].

Mirra, SS ;

Murrell, JR ;

Gearing, M ;

Spillantini, MG ;

Goedert, M ;

Crowther, A ;

Levey, AI ;

Jones, R ;

Green, J ;

Shoffner, JM ;

Wainer, BH ;

Schmidt, ML ;

Trojanowski, JQ ;

Ghetti, B .

JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 1999, 58 (04) :335-345

[39] Anosognosia, autobiographical memory and self knowledge in Alzheimer's disease [J].

Morris, Robin G. ;

Mograbi, Daniel C. .

CORTEX, 2013, 49 (06) :1553-1565

[40] RESPONSE LATENCIES IN NAMING OBJECTS [J].

OLDFIELD, RC ;

WINGFIELD, A .

QUARTERLY JOURNAL OF EXPERIMENTAL PSYCHOLOGY, 1965, 17 (04) :273-281

← 1 2 3 4 5 6 7 →