Limphaibool Nattakarn, Iwanowski Piotr, Holstad Marte Johanne Veilemand, Perkowska Katarzyna
Department of Neurology, Poznan University of Medical Sciences, Poznan, Poland.
Front Neurol. 2018 Oct 12;9:857. doi: 10.3389/fneur.2018.00857. eCollection 2018.
Parkinson's Disease (PD) is a common neurodegenerative disorder manifesting as reduced facilitation of voluntary movements. Extensive research over recent decades has expanded our insights into the pathogenesis of the disease, where PD is indicated to result from multifactorial etiological factors involving environmental contributions in genetically predisposed individuals. There has been considerable interest in the association between neurological manifestations in PD and in inherited metabolic disorders (IMDs), which are genetic disorders characterized by a deficient activity in the pathways of intermediary metabolism leading to multiple-system manifestations. In addition to the parallel in various clinical features, there is increasing evidence for the notion that genetic mutations underlying IMDs may increase the risk of PD development. This review highlights the recent advances in parkinsonism in patients with IMDs, with the primary objective to improve the understanding of the overlapping pathogenic pathways and clinical presentations in both disorders. We discuss the genetic convergence and disruptions in biochemical mechanisms which may point to clues surrounding pathogenesis-targeted treatment and other promising therapeutic strategies in the future.
帕金森病（PD）是一种常见的神经退行性疾病，表现为随意运动的易化作用减弱。近几十年来的广泛研究拓展了我们对该疾病发病机制的认识，表明PD是由多因素病因导致的，涉及环境因素对具有遗传易感性个体的影响。人们对PD的神经学表现与遗传性代谢紊乱（IMDs）之间的关联颇感兴趣，IMDs是一类遗传性疾病，其特征是中间代谢途径活性不足，导致多系统表现。除了各种临床特征的相似性外，越来越多的证据表明，IMDs潜在的基因突变可能会增加PD发生的风险。本综述重点介绍了IMDs患者帕金森综合征的最新进展，主要目的是增进对这两种疾病重叠的致病途径和临床表现的理解。我们讨论了基因趋同和生化机制的破坏，这可能为未来针对发病机制的治疗及其他有前景的治疗策略提供线索。
