Rusina Robert, Vandenberghe Rik, Bruffaerts Rose
Department of Neurology, Third Faculty of Medicine, Charles University, and Thomayer University Hospital, 140 59 Prague, Czech Republic.
Laboratory for Cognitive Neurology, Department of Neurosciences, Leuven Brain Institute (LBI), KU, 3000 Leuven, Belgium.
Diagnostics (Basel). 2021 Mar 30;11(4):624. doi: 10.3390/diagnostics11040624.
Amyotrophic lateral sclerosis (ALS) has long been considered to be a purely motor disorder. However, it has become apparent that many ALS patients develop cognitive and behavioral manifestations similar to frontotemporal dementia and the term amyotrophic lateral sclerosis-frontotemporal spectrum disorder (ALS-FTSD) is now used in these circumstances. This review is intended to be an overview of the cognitive and behavioral manifestations commonly encountered in ALS patients with the goal of improving case-oriented management in clinical practice. We introduce the principal ALS-FTSD subtypes and comment on their principal clinical manifestations, neuroimaging findings, neuropathological and genetic background, and summarize available therapeutic options. Diagnostic criteria for ALS-FTSD create distinct categories based on the type of neuropsychological manifestations, i.e., changes in behavior, impaired social cognition, executive dysfunction, and language or memory impairment. Cognitive impairment is found in up to 65%, while frank dementia affects about 15% of ALS patients. ALS motor and cognitive manifestations can worsen in parallel, becoming more pronounced when bulbar functions (affecting speech, swallowing, and salivation) are involved. Dementia can precede or develop after the appearance of motor symptoms. ALS-FTSD patients have a worse prognosis and shorter survival rates than patients with ALS or frontotemporal dementia alone. Important negative prognostic factors are behavioral and personality changes. From the clinician's perspective, there are five major distinguishable ALS-FTSD subtypes: ALS with cognitive impairment, ALS with behavioral impairment, ALS with combined cognitive and behavioral impairment, fully developed frontotemporal dementia in combination with ALS, and comorbid ALS and Alzheimer's disease. Although the most consistent ALS and ALS-FTSD pathology is a disturbance in transactive response DNA binding protein 43 kDa (TDP-43) metabolism, alterations in microtubule-associated tau protein metabolism have also been observed in ALS-FTSD. Early detection and careful monitoring of cognitive deficits in ALS are crucial for patient and caregiver support and enable personalized management of individual patient needs.
肌萎缩侧索硬化症(ALS)长期以来一直被认为是一种纯粹的运动障碍。然而,现在很明显,许多ALS患者会出现类似于额颞叶痴呆的认知和行为表现,在这种情况下,现在使用术语肌萎缩侧索硬化症-额颞叶谱系障碍(ALS-FTSD)。本综述旨在概述ALS患者常见的认知和行为表现,目的是改善临床实践中以病例为导向的管理。我们介绍了主要的ALS-FTSD亚型,并对其主要临床表现、神经影像学发现、神经病理学和遗传背景进行了评论,并总结了可用的治疗选择。ALS-FTSD的诊断标准根据神经心理学表现的类型创建了不同的类别,即行为改变、社会认知受损、执行功能障碍以及语言或记忆障碍。高达65%的ALS患者存在认知障碍,而约15%的ALS患者患有明显的痴呆症。ALS的运动和认知表现可能会同时恶化,当涉及延髓功能(影响言语、吞咽和唾液分泌)时会变得更加明显。痴呆症可能在运动症状出现之前或之后发生。与单独患有ALS或额颞叶痴呆的患者相比,ALS-FTSD患者的预后更差,生存率更低。重要的负面预后因素是行为和人格改变。从临床医生的角度来看,有五种主要的可区分的ALS-FTSD亚型:伴有认知障碍的ALS、伴有行为障碍的ALS、伴有认知和行为联合障碍的ALS、与ALS合并的完全发展的额颞叶痴呆以及合并ALS和阿尔茨海默病。尽管最一致的ALS和ALS-FTSD病理学是43 kDa的反应性DNA结合蛋白(TDP-43)代谢紊乱,但在ALS-FTSD中也观察到了微管相关tau蛋白代谢的改变。早期发现和仔细监测ALS患者的认知缺陷对于患者和护理人员的支持至关重要,并能够根据个体患者的需求进行个性化管理。