Brain and Mind Centre, University of Sydney, Sydney, NSW
Brain and Mind Centre, University of Sydney, Sydney, NSW.
Med J Aust. 2017 Sep 2;207(7):303-308. doi: 10.5694/mja16.01458.
Behavioural variant frontotemporal dementia is characterised by insidious changes in personality and interpersonal conduct that reflect progressive disintegration of the neural circuits involved in social cognition, emotion regulation, motivation and decision making. The underlying pathology is heterogeneous and classified according to the presence of intraneuronal inclusions of tau, TDP-43 or, occasionally, fused in sarcoma proteins. Biomarkers to detect these histopathological changes in life are increasingly important with the development of disease-modifying drugs. A number of gene abnormalities have been identified, the most common being an expansion in the C9orf72 gene, which together account for most familial cases. The 2011 international consensus criteria propose three levels of diagnostic certainty: possible, probable and definite. Detailed history taking from family members to elicit behavioural features underpins the diagnostic process, with support from neuropsychological testing designed to detect impairment in decision making, emotion processing and social cognition. Brain imaging is important for increasing the level of diagnosis certainty over time. Carer education and support remain of paramount importance.
行为变异型额颞叶痴呆的特征是人格和人际关系逐渐发生变化，反映出涉及社会认知、情绪调节、动机和决策的神经网络逐渐解体。其潜在的病理学是异质的，并根据是否存在神经原纤维缠结中的 tau、TDP-43 或偶尔融合肉瘤蛋白进行分类。随着疾病修饰药物的发展，检测这些组织病理学变化的生物标志物变得越来越重要。已经确定了许多基因异常，最常见的是 C9orf72 基因的扩增，这些基因共同占大多数家族病例。2011 年国际共识标准提出了三个诊断确定性级别：可能、可能和确定。详细的家族史采集以引出行为特征为诊断过程提供依据，辅助以旨在检测决策、情绪处理和社会认知障碍的神经心理学测试。脑成像对于随着时间的推移提高诊断确定性水平很重要。照顾者的教育和支持仍然至关重要。
