Department of Neurology, Massachusetts General Hospital, 55 Fruit St, Boston, MA 02114.
Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts, USA.
J Clin Psychiatry. 2020 Mar 31;81(2):19r13027. doi: 10.4088/JCP.19r13027.
To present a striking case of new-onset psychosis in a middle-aged woman subsequently diagnosed with behavioral variant frontotemporal dementia (bvFTD). To review the data regarding key red-flag features that may suggest a diagnosis of a neurodegenerative process, and specifically bvFTD, rather than a primary psychotic disorder. To examine the role of genetics, especially mutations of the microtubule-associated protein tau (MAPT) gene, in familial cases of frontotemporal dementia (FTD).
The pertinent literature was searched online (PubMed, Google Scholar) using the following search terms: frontotemporal dementia (FTD), Pick's disease, behavioral variant FTD (bvFTD), psychosis, delusions, MAPT, and genetics. No date or language limit was applied.
The case report was generated through detailed assessment of clinical notes, imaging studies, and laboratory results. The brain autopsy was carried out and summarized by our neuropathology team. Previously published literature was selected for inclusion in the review section based on relevance to the topic.
A neurodegenerative etiology for psychosis (and specifically bvFTD) should be suspected in patients with progressive deficits in executive function, language, or memory. Other key warning features include the presence of a strong family history of a late-life psychotic disorder (or institutional placement or suicide), loss of empathy, impaired recognition of facial expression, or the development of emotional blunting and apathy, abnormal movements, or seizures.
Neurodegenerative disease should be on the differential diagnosis for any patient presenting with new-onset psychosis and behavioral changes in mid to late adulthood. Should red-flag features be present, early referral to a clinic specializing in dementia is recommended for further evaluation. This case highlights that MAPT mutations can be associated with psychosis in FTD and should be considered in the genetic workup. Ongoing research into the cellular and neural circuit mechanisms of psychosis in neurodegenerative disease may shed light on pathologic processes underlying psychosis in primary psychiatric disorders.
介绍一例中年女性新发精神病病例，随后诊断为行为变异额颞叶痴呆（bvFTD）。回顾关键的警示特征数据，这些特征可能提示神经退行性疾病的诊断，特别是 bvFTD，而不是原发性精神病。检查遗传学，特别是微管相关蛋白 tau（MAPT）基因突变，在额颞叶痴呆（FTD）家族病例中的作用。
使用以下搜索词在线（PubMed，Google Scholar）搜索相关文献：额颞叶痴呆（FTD）、匹克氏病、行为变异额颞叶痴呆（bvFTD）、精神病、妄想、MAPT 和遗传学。未应用日期或语言限制。
通过详细评估临床记录、影像学研究和实验室结果生成病例报告。我们的神经病理学小组对脑尸检进行了总结。根据与主题的相关性，选择了先前发表的文献纳入综述部分。
对于执行功能、语言或记忆逐渐出现缺陷的患者，应怀疑精神病（特别是 bvFTD）的神经退行性病因。其他关键警示特征包括家族中有晚发性精神病（或机构安置或自杀）、同理心丧失、面部表情识别受损、情绪迟钝和冷漠、异常运动或癫痫发作的强烈病史。
对于任何出现新发精神病和中年后期行为改变的患者，都应将神经退行性疾病纳入鉴别诊断。如果存在警示特征，建议尽早向专门治疗痴呆症的诊所转介，以进行进一步评估。本病例强调 MAPT 突变可与 FTD 中的精神病相关，应在遗传检查中考虑。对神经退行性疾病中精神病的细胞和神经回路机制的持续研究可能会揭示原发性精神障碍中精神病的病理过程。
