Department of Psychiatry and Clinical Psychology, Saint Georges Hospital University Medical Center, Youssef Sursock Street, PO Box 166378, Beirut, Lebanon.
Faculty of Medicine, University of Balamand, Beirut, Lebanon.
CNS Drugs. 2021 Apr;35(4):425-438. doi: 10.1007/s40263-021-00813-0. Epub 2021 Apr 11.
Frontotemporal dementia is a heterogeneous spectrum of neurodegenerative disorders. The neuropathological inclusions are tau proteins, TAR DNA binding protein 43 kDa-TDP-43, or fused in sarcoma-ubiquitinated inclusions. Genetically, several autosomal mutations account for the heritability of the disorder. Phenotypically, frontotemporal dementia can present with a behavioral variant or a language variant called primary progressive aphasia. To date, there are no approved symptomatic or disease-modifying treatments for frontotemporal dementia. Currently used therapies are supported by low-level of evidence (mostly uncontrolled) studies. The off-label use of drugs is also limited by their side-effect profile including an increased risk of confusion, parkinsonian symptoms, and risk of mortality. Emerging disease-modifying treatments currently target the progranulin and the expansion on chromosome 9 open reading frame 72 genes as well as tau deposits. Advancing our understanding of the pathophysiology of the disease and improving the design of future clinical trials are much needed to optimize the chances to obtain positive outcomes.
额颞叶痴呆是一组异质性神经退行性疾病。神经病理学包涵体是tau 蛋白、TAR DNA 结合蛋白 43 kDa-TDP-43 或融合肉瘤-泛素化包涵体。遗传上,几种常染色体突变导致该疾病的遗传性。表型上,额颞叶痴呆可表现为行为变异型或语言变异型,称为原发性进行性失语。迄今为止,尚无批准用于额颞叶痴呆的对症或疾病修饰治疗方法。目前使用的治疗方法的证据水平较低(主要是非对照)研究。药物的标签外使用也受到其副作用谱的限制,包括增加混乱、帕金森症状和死亡风险的风险。目前新兴的疾病修饰治疗方法主要针对颗粒蛋白和 9 号染色体开放阅读框 72 基因的扩增以及 tau 沉积。为了优化获得阳性结果的机会,迫切需要深入了解疾病的病理生理学,并改进未来临床试验的设计。