Ali Farwa, Botha Hugo, Whitwell Jennifer L, Josephs Keith A
Department of Neurology Mayo Clinic Rochester Minnesota USA.
Department of Radiology Mayo Clinic Rochester Minnesota USA.
Mov Disord Clin Pract. 2019 Jul 24;6(6):436-439. doi: 10.1002/mdc3.12807. eCollection 2019 Jul.
When the 2017 Movement Disorders Society Criteria for progressive supranuclear palsy is applied, patients may appear to have multiple phenotypes. The maximum allocation extinction rules were developed to provide a consistent method for applying the criteria and reaching a single diagnostic label. In this study, we apply both to a neuropathologic cohort of progressive supranuclear palsy and other parkinsonian conditions.
An autopsy cohort of 54 patients with progressive supranuclear palsy and 56 patients with other neuropathologic diseases was selected. Clinical data were retrospectively abstracted, and the diagnostic criteria for progressive supranuclear palsy were applied. All possible phenotypes applicable were listed and maximum allocation extinction rules were applied to assess reduction in the number of phenotypes ascribed per patient.
In the progressive supranuclear palsy group, 52 patients met the criteria for multiple phenotypes, with an average of 7 phenotypes per patient. In the nonprogressive supranuclear palsy group, all 56 patients had features of more than one phenotype, up to 3 per patient. After application of maximum allocation extinction rules, the majority of the patients in both groups had a single predominant phenotype. Freezing of gait, supranuclear gaze palsy, and frontal behavioral syndrome were more common in the progressive supranuclear palsy group.
The diagnostic criteria for progressive supranuclear palsy identify many clinical features, thereby leading to assignment of multiple phenotypes per patient. We demonstrate that the maximum allocation extinction rules can effectively lead to a single consensus phenotype, maintaining a uniform diagnostic label for clinical and research applications.
应用2017年运动障碍协会进行性核上性麻痹标准时，患者可能表现出多种表型。制定最大分配消除规则是为了提供一种应用该标准并得出单一诊断标签的一致方法。在本研究中，我们将这两种方法应用于进行性核上性麻痹及其他帕金森病性疾病的神经病理学队列。
选取54例进行性核上性麻痹患者和56例患有其他神经病理学疾病患者的尸检队列。回顾性提取临床数据，并应用进行性核上性麻痹的诊断标准。列出所有可能适用的表型，并应用最大分配消除规则来评估每位患者所归属的表型数量的减少情况。
在进行性核上性麻痹组中，52例患者符合多种表型的标准，每位患者平均有7种表型。在非进行性核上性麻痹组中，所有56例患者都有不止一种表型的特征，每位患者最多有3种。应用最大分配消除规则后，两组中的大多数患者都有一种主要的表型。步态冻结、核上性凝视麻痹和额叶行为综合征在进行性核上性麻痹组中更为常见。
进行性核上性麻痹的诊断标准识别出许多临床特征，从而导致每位患者被分配多种表型。我们证明，最大分配消除规则可以有效地得出单一的共识表型，为临床和研究应用维持统一的诊断标签。
