Presymptomatic semantic impairment in a case of frontotemporal lobar degeneration associated with the+16 mutation in MAPT
Presymptomatic semantic impairment in a case of frontotemporal lobar degeneration associated with the+16 mutation in MAPT
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DOI：
10.1080/13554790500205421
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发表时间：
2005-10-01
期刊：
影响因子：
0.8
通讯作者：
Carroll, E
中科院分区：
文献类型：
--
作者：
Garrard, P;Carroll, E
我们描述了一个患者，他因其在tau基因中 + 16外显子10剪接突变的高风险状态（微管相关蛋白tau，mapt）引起了神经系统的关注，这引起了他的两个兄弟姐妹的渐进行为扰动。 。患者在他的两个兄弟姐妹的症状发作时代左右开始表现出早期的行为障碍迹象。尽管他没有自发抱怨语言领域的困难，但谎言符合语义痴呆的临床，放射学和神经心理学标准。石油假设他的疾病是通过与兄弟姐妹相同的病理过程介导的，我们建议这种临床状况代表了语义障碍的最早变化 - 这种疾病的阶段经常被患者及其关系及其关系，他们的关系及其关系。但以前从未在第一土地上记录过。尽管在许多方面都有典型的语义性痴呆症，但该疾病具有几个有趣且非典型的特征，这些特征出现了详细的测试：首先，谎言对他的困难没有任何了解。其次，超过十二个月间隔的进展异常缓慢。第三，他证明了非生命比活着的概念具有惊人和一致的优势。第四，除非仍然可以将谎言的物品与谎言是异常的物品进行比较，否则对共同知识的独特障碍并没有出现。最后，从他的两个受影响的兄弟姐妹的大脑中，验尸病后病理分析的可用性使我们能够将他的疾病归因于特定的病理过程，这对于患有这种临床表型的患者被认为是不寻常的。
We describe a patient who came to neurological attention because of his at-risk status for the + 16 exon 10 splice mutation in the tau gene (microtubule associated protein tau, MAPT), which had given rise to progressive behavioural disturbances in two of his siblings. The patient began to exhibit early signs of behavioural disturbance at around the age of symptom onset in both of his siblings. Although he did not spontaneously complain of difficulties in the domain of language, lie met clinical, radiological and neuropsychological criteria for semantic dementia. Oil the assumption that his illness is mediated by the same pathological process as those of his siblings, we propose that this clinical Picture represents the earliest changes of a semantic impairment - a phase of the illness that is often retrospectively described by patients and their relations, but has never previously been documented at First]land. Although typical of semantic dementia in many respects, the illness had several interesting and atypical features that emerged oil detailed testing: first, lie exhibited no insight into his difficulties; secondly, progression over a twelve-month interval Was unusually slow; thirdly, he evinced a striking and consistent advantage for nonliving over living concepts; Fourthly, a differential impairment of distinctive over shared knowledge did not emerge except when items that lie Could still name were compared with those for which lie was anomic. Finally, the availability of post mortem pathological analysis from the brains of both of his affected siblings allowed us to attribute his illness to a specific pathological process which is considered unusual for patients with this clinical phenotype.