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.

额颞叶痴呆是神经退行性疾病的异质谱。神经病理学包涵体是 tau 蛋白、TAR DNA 结合蛋白 43 kDa-TDP-43，或融合在肉瘤泛素化包涵体中。在遗传上，几种常染色体突变解释了该疾病的遗传性。在表型上，额颞叶痴呆可表现为行为变异或称为原发性进行性失语症的语言变异。迄今为止，尚无经批准的额颞叶痴呆症状或改善疾病的治疗方法。目前使用的疗法得到了低水平证据（大多是不受控制的）研究的支持。药物的标签外使用也受到副作用的限制，包括增加的混乱风险、帕金森症状和死亡风险。新兴的疾病缓解治疗目前针对颗粒蛋白前体和染色体 9 开放阅读框 72 基因的扩展以及 tau 沉积物。促进我们对疾病病理生理学的理解和改进未来临床试验的设计对于优化获得积极结果的机会是非常必要的。