Donker Kaat L, Boon A J, Heutink P, van Swieten J C
Erasmus Medisch Centrum, afd. Neurologie, Dr. Molewaterplein 40, 3015 GD Rotterdam.
Ned Tijdschr Geneeskd. 2004 Mar 13;148(11):519-23.
Progressive supranuclear palsy is a neurodegenerative disorder accompanied by parkinsonism, disturbances of eye movements, pseudobulbar palsy and often cognitive decline. Onset of disease is usually between 50-70 years of age and mean survival is 5-8 years. The prevalence of PSP has been estimated at around 5 per 100,000, although exact figures for the population of the Netherlands are not yet available. International consensus criteria differentiate between possible, probable and definite PSP; the latter requiring neuropathological confirmation. An extensive differential diagnosis may be made early in the course of the disease, but at a later stage development of the characteristic symptoms will make diagnosis easier. Imaging techniques can lend support to the clinical diagnosis to a limited extent, although they lack sufficient specificity to confirm it. PSP is a 'tauopathy' characterized by aggregates of abnormal tau protein in the basal ganglia and brainstem. Some mutations in the tau gene can cause a clinical and pathological picture similar to that of PSP, although most patients with sporadic and familial PSP do not have tau mutations. Various studies have found a strong association between PSP and a specific tau haplotype (H1 haplotype), but its role in the pathophysiological mechanism of PSP is still unclear and needs further research.
进行性核上性麻痹是一种神经退行性疾病，伴有帕金森综合征、眼球运动障碍、假性球麻痹，且常伴有认知功能下降。发病年龄通常在50至70岁之间，平均生存期为5至8年。尽管荷兰人群的确切数据尚不可得，但据估计进行性核上性麻痹的患病率约为每10万人中有5例。国际共识标准将可能的、很可能的和确诊的进行性核上性麻痹区分开来；后者需要神经病理学证实。在疾病过程早期可能需要进行广泛的鉴别诊断，但在后期特征性症状的出现将使诊断更容易。影像学技术在一定程度上可以辅助临床诊断，尽管它们缺乏足够的特异性来确诊。进行性核上性麻痹是一种“tau蛋白病”，其特征是基底神经节和脑干中存在异常tau蛋白聚集体。tau基因的一些突变可导致与进行性核上性麻痹相似的临床和病理表现，尽管大多数散发性和家族性进行性核上性麻痹患者没有tau基因突变。多项研究发现进行性核上性麻痹与一种特定的tau单倍型（H1单倍型）之间存在密切关联，但其在进行性核上性麻痹病理生理机制中的作用仍不清楚，需要进一步研究。
