Genetics Underlying Atypical Parkinsonism and Related Neurodegenerative Disorders.
Genetics Underlying Atypical Parkinsonism and Related Neurodegenerative Disorders.
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DOI：
10.3390/ijms161024629
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发表时间：
2015-10-16
影响因子：
5.6
通讯作者：
Bras J
中科院分区：
文献类型：
--
作者：
Scholz SW;Bras J
不典型帕金森综合征是具有复杂临床病理特征的神经退行性疾病，如路易体痴呆、多系统萎缩、进行性核上性麻痹、皮质基底变性等。临床表现的异质性，可能的次要决定因素以及模拟综合征对准确诊断患有这些破坏性疾病的患者构成了重大挑战。在过去的二十年中，基因组技术的重大进步使我们对非典型帕金森病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多的了解，为将分子知识纳入我们的诊断、预后和治疗方法以管理这些疾病带来了新的希望。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的遗传机制的理解。我们进一步强调与鉴别考虑和可能的未来方向相关的模拟综合征。
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.