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Abstract：
Anderson-Fabry disease (AFD) is a genetic sphingolipidosis involving virtually the entire body. Among its manifestation, the involvement of the central and peripheral nervous system is frequent. In recent decades, it has become evident that, besides cerebrovascular damage, a pure neuronal phenotype of AFD exists in the central nervous system, which is supported by clinical, pathological, and neuroimaging data. This neurodegenerative phenotype is often clinically characterized by an extrapyramidal component similar to the one seen in prodromal Parkinson\'s disease (PD). We analyzed the biological, clinical pathological, and neuroimaging data supporting this phenotype recently proposed in the literature. Moreover, we compared the neurodegenerative PD phenotype of AFD with a classical monogenic vascular disease responsible for vascular parkinsonism and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). A substantial difference in the clinical and neuroimaging features of neurodegenerative and vascular parkinsonism phenotypes emerged, with AFD being potentially responsible for both forms of the extrapyramidal involvement, and CADASIL mainly associated with the vascular subtype. The available studies share some limitations regarding both patients\' information and neurological and genetic investigations. Further studies are needed to clarify the potential association between AFD and extrapyramidal manifestations.
摘要：
Anderson-Fabry病（AFD）是一种遗传性鞘脂症，几乎涉及整个身体。在其表现形式中，中枢神经系统和周围神经系统经常受累。近几十年来,很明显，除了脑血管损伤,AFD的纯神经元表型存在于中枢神经系统，由临床支持，病态,和神经影像数据。这种神经变性表型的临床特征通常是锥体外系成分，类似于前驱帕金森病（PD）。我们分析了生物，临床病理，以及最近在文献中提出的支持这种表型的神经影像学数据。此外，我们将AFD的神经退行性PD表型与经典的单基因血管疾病进行了比较,该疾病可导致血管性帕金森综合征和常染色体显性遗传性脑动脉病伴皮质下梗死和白质脑病(CADASIL).神经退行性和血管性帕金森综合征表型的临床和神经影像学特征出现了实质性差异，AFD可能导致两种形式的锥体外系受累，CADASIL主要与血管亚型有关。现有的研究在患者信息以及神经和遗传调查方面都存在一些局限性。需要进一步的研究来阐明AFD和锥体外系表现之间的潜在关联。
