Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK.
UCL Institute of Prion Diseases, MRC Prion Unit at UCL, London, UK.
Neuropathol Appl Neurobiol. 2019 Feb;45(1):6-18. doi: 10.1111/nan.12535.
Frontotemporal dementia (FTD) is a heterogeneous group of disorders causing neurodegeneration within a network of areas centred on the frontal and temporal lobes. Clinically, patients present with behavioural symptoms (behavioural variant FTD) or language disturbance (primary progressive aphasia), although there is an overlap with motor neurone disease and atypical parkinsonian disorders. Whilst neuroimaging commonly reveals abnormalities in the frontal and temporal lobes, a closer review identifies a more complex picture with variable asymmetry of neuronal loss, widespread subcortical involvement and in many cases more posterior cortical atrophy. An autosomal-dominant genetic disorder is found in around a third of people with mutations in progranulin, C9orf72 and the microtubule-associated protein tau being the commonest causes. In the other two-thirds, the disorder is sporadic, although recent genome-wide association studies have started to identify genetic risk factors within this group. Much of this knowledge has been understood only in the past 10 years and so this review will discuss the current knowledge about the clinical, genetic and neuroimaging features of FTD.
额颞叶痴呆（FTD）是一组异质性疾病，导致位于额颞叶为中心的网络区域的神经退行性变。临床上，患者表现为行为症状（行为变异型额颞叶痴呆）或语言障碍（原发性进行性失语），尽管与运动神经元病和非典型帕金森病有重叠。虽然神经影像学通常显示额叶和颞叶异常，但更仔细的检查发现了更复杂的情况，存在神经元丢失的可变不对称性、广泛的皮质下受累，在许多情况下还有更靠后的皮质萎缩。大约三分之一的患者存在颗粒蛋白前体、C9orf72 和微管相关蛋白 tau 突变的常染色体显性遗传疾病。在另外三分之二的散发性病例中，这种疾病是散发性的，尽管最近的全基因组关联研究已经开始在该组中确定遗传风险因素。这些知识大部分是在过去 10 年才被理解的，因此这篇综述将讨论 FTD 的临床、遗传和神经影像学特征的最新知识。
