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一只认知的变色龙：来自一个新型MAPT突变病例的经验教训。

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

作者信息

Liang Yuying, Gordon Elizabeth, Rohrer Jonathan, Downey Laura, de Silva Rohan, Jäger Hans Rolf, Nicholas Jennifer, Modat Marc, Cardoso M Jorge, Mahoney Colin, Warren Jason, Rossor Martin, Fox Nick, Caine Diana

机构信息

a Dementia Research Centre, Department of Neurodegenerative Diseases , UCL Institute of Neurology , London WC1N 3BG , UK.

出版信息

Neurocase. 2014;20(6):684-94. doi: 10.1080/13554794.2013.826697. Epub 2013 Sep 2.

DOI:10.1080/13554794.2013.826697
PMID:23998300
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4151790/
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.

摘要

我们报告了一例由新型微管相关蛋白tau（MAPT）突变（Q351R）引起的额颞叶痴呆病例，其具有非常长的遗忘表现，类似于家族性阿尔茨海默病。纵向临床、神经心理学和影像学数据提供了趋同证据，表明主要是双侧前内侧颞叶受累，这与先前确定的MAPT突变的神经解剖学特征一致。该病例支持这样一种观点，即MAPT突变所影响的神经网络在很大程度上由潜在的分子病理学决定。我们在非典型遗忘的背景下讨论命名障碍的诊断意义，以及情景记忆和语义记忆系统受损对自传体记忆的影响。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4db9/4151790/141a2fe95e68/nncs-20-684-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4db9/4151790/0704148996c9/nncs-20-684-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4db9/4151790/da097ff4c902/nncs-20-684-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4db9/4151790/2fb9d0d282e1/nncs-20-684-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4db9/4151790/6abc3f347900/nncs-20-684-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4db9/4151790/141a2fe95e68/nncs-20-684-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4db9/4151790/0704148996c9/nncs-20-684-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4db9/4151790/da097ff4c902/nncs-20-684-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4db9/4151790/2fb9d0d282e1/nncs-20-684-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4db9/4151790/6abc3f347900/nncs-20-684-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4db9/4151790/141a2fe95e68/nncs-20-684-g005.jpg

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