Scholz Sonja W, Bras Jose
Neurodegenerative Diseases Research Unit, Laboratory of Neurogenetics, National Institute of Neurological Disorders and Stroke, National Institutes of Health, 35 Convent Drive, Bethesda, MD 20892, USA.
Department of Neurology, Johns Hopkins University School of Medicine, 1800 Orleans Street, Baltimore, MD 21287, USA.
Int J Mol Sci. 2015 Oct 16;16(10):24629-55. doi: 10.3390/ijms161024629.
Atypical parkinsonism syndromes, such as dementia with Lewy bodies, multiple system atrophy, progressive supranuclear palsy and corticobasal degeneration, are neurodegenerative diseases with complex clinical and pathological features. Heterogeneity in clinical presentations, possible secondary determinants as well as mimic syndromes pose a major challenge to accurately diagnose patients suffering from these devastating conditions. Over the last two decades, significant advancements in genomic technologies have provided us with increasing insights into the molecular pathogenesis of atypical parkinsonism and their intriguing relationships to related neurodegenerative diseases, fueling new hopes to incorporate molecular knowledge into our diagnostic, prognostic and therapeutic approaches towards managing these conditions. In this review article, we summarize the current understanding of genetic mechanisms implicated in atypical parkinsonism syndromes. We further highlight mimic syndromes relevant to differential considerations and possible future directions.
非典型帕金森综合征，如路易体痴呆、多系统萎缩、进行性核上性麻痹和皮质基底节变性，是具有复杂临床和病理特征的神经退行性疾病。临床表现的异质性、可能的次要决定因素以及模仿综合征对准确诊断患有这些毁灭性疾病的患者构成了重大挑战。在过去二十年中，基因组技术取得了重大进展，使我们对非典型帕金森综合征的分子发病机制及其与相关神经退行性疾病的有趣关系有了越来越深入的了解，为将分子知识纳入我们对这些疾病的诊断、预后和治疗方法带来了新的希望。在这篇综述文章中，我们总结了目前对非典型帕金森综合征相关遗传机制的理解。我们进一步强调了与鉴别诊断相关的模仿综合征以及可能的未来方向。
