Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, London, UK.
Mov Disord. 2013 Aug;28(9):1184-99. doi: 10.1002/mds.25509. Epub 2013 May 29.
Recently, a number of genetic parkinsonian conditions have been recognized that share some features with the clinical syndromes of progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), and multiple system atrophy (MSA), the classic phenotypic templates of atypical parkinsonism. For example, patients with progranulin, dynactin, or ATP13A gene mutations may have vertical supranuclear gaze palsy. This has made differential diagnosis difficult for practitioners. In this review, our goal is to make clinicians aware of these genetic disorders and provide clinical clues and syndromic associations, as well as investigative features, that may help in diagnosing these disorders. The correct identification of these patients has important clinical, therapeutic, and research implications. © 2013 Movement Disorder Society.
最近，人们已经认识到了一些遗传性帕金森病，这些疾病在一些方面与进行性核上性麻痹（PSP）、皮质基底节变性（CBD）和多系统萎缩（MSA）的临床综合征共享，这些疾病是不典型帕金森病的经典表型模板。例如，具有颗粒蛋白、动力蛋白或 ATP13A 基因突变的患者可能有垂直性核上性眼球运动障碍。这使得临床医生的鉴别诊断变得困难。在这篇综述中，我们的目标是让临床医生意识到这些遗传疾病，并提供临床线索和综合征关联，以及可能有助于诊断这些疾病的研究特征。正确识别这些患者具有重要的临床、治疗和研究意义。
© 2013 Movement Disorder Society.
