Block Nikolas R, Sha Sharon J, Karydas Anna M, Fong Jamie C, De May Mary G, Miller Bruce L, Rosen Howard J
Department of Neurology, Memory and Aging Center, University of California, San Francisco, CA.
Department of Neurology, Stanford Center for Memory Disorders, Stanford University, Palo Alto, CA.
Am J Geriatr Psychiatry. 2016 Feb;24(2):107-16. doi: 10.1016/j.jagp.2015.04.007. Epub 2015 Jun 21.
To describe psychiatric presentations in individuals with genetic mutations causing frontotemporal dementia (FTD).
Case descriptions from five carriers of FTD-related gene mutations with symptoms associated with non-neurodegenerative psychiatric disease.
A comprehensive research program investigating genetic and non-genetic FTD at the University of California, San Francisco Memory and Aging Center.
Three proband and two non-proband gene carriers.
Medical history and neurological examination, neuropsychological testing, magnetic resonance and/or positron emission tomography imaging, and a genetic analysis to screen for dementia-related mutations. Genetic status was unknown at the time of initial evaluation.
The chosen cases are illustrative of the variety of presentations of psychiatric symptoms in FTD gene carriers. In some cases, a non-neurodegenerative psychiatric illness was diagnosed based on specific symptoms, but the diagnosis may have been inappropriate based on the overall syndrome. In other cases, symptoms closely resembling those seen in non-neurodegenerative psychiatric illness did occur, in some cases immediately preceding the development of dementia, and in other cases developing a decade prior to dementia symptoms.
Psychiatric symptoms in FTD gene carriers can be very similar to those seen in non-neurodegenerative psychiatric illness. Psychiatric symptoms with atypical features (e.g., late-life onset, insidiously worsening course) should prompt careful assessment for neurodegenerative disease. Guidelines for such an assessment should be established.
描述由基因突变导致额颞叶痴呆（FTD）的个体的精神症状表现。
对5名与FTD相关基因突变携带者的病例描述，这些携带者具有与非神经退行性精神疾病相关的症状。
加利福尼亚大学旧金山分校记忆与衰老中心开展的一项研究遗传和非遗传FTD的综合研究项目。
3名先证者和2名非先证者基因携带者。
病史和神经学检查、神经心理学测试、磁共振和/或正电子发射断层扫描成像，以及用于筛查痴呆相关突变的基因分析。初始评估时基因状态未知。
所选病例说明了FTD基因携带者精神症状表现的多样性。在某些病例中，根据特定症状诊断为非神经退行性精神疾病，但基于整体综合征来看该诊断可能并不恰当。在其他病例中，确实出现了与非神经退行性精神疾病中所见症状极为相似的症状，有些病例在痴呆症出现之前立即出现，而在其他病例中则在痴呆症状出现前十年就已出现。
FTD基因携带者的精神症状可能与非神经退行性精神疾病中所见症状非常相似。具有非典型特征（如晚年起病、隐匿性病情恶化）的精神症状应促使对神经退行性疾病进行仔细评估。应制定此类评估的指导原则。
