Schneider Susanne A, Bhatia Kailash P, Hardy John
Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, United Kingdom.
Mov Disord. 2009 Mar 15;24(4):490-9. doi: 10.1002/mds.22314.
In addition to pure PD and pure dystonic syndromes, there are a group of disorders with overlapping features. The differential diagnosis of these dystonia parkinsonism syndromes can be complex. In view of the growing list of recognized disorders and recent advances in genetics, we review the autosomal recessive forms of dystonia parkinsonism, summarizing clinical presentations, results of investigations, and response to treatment of gene-proven cases. We concentrate on PANK2-, PLA2G6-, ATP13A2-, FBX07, TAF1-, and PRKRA-associated neurodegeneration. Parkin, PINK1, and DJ-1 are also briefly reviewed.
除了单纯的帕金森病和单纯的肌张力障碍综合征外，还有一组具有重叠特征的疾病。这些肌张力障碍-帕金森综合征的鉴别诊断可能很复杂。鉴于已确认疾病的不断增加以及遗传学的最新进展，我们回顾了肌张力障碍-帕金森综合征的常染色体隐性遗传形式，总结了基因确诊病例的临床表现、检查结果及治疗反应。我们重点关注与泛酸激酶2（PANK2）、磷脂酶A2（PLA2G6）、ATP酶13A2（ATP13A2）、F-box蛋白7（FBX07）、TATA盒结合蛋白相关因子1（TAF1）和蛋白激酶R激活蛋白（PRKRA）相关的神经退行性变。同时也简要回顾了帕金森蛋白（Parkin）、PTEN诱导激酶1（PINK1）和DJ-1。
