Dino Ferrari Center, Department of Pathophysiology and Transplantation, Neuroscience Section, University of Milan, 20122 Milan, Italy.
Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, 20122 Milan, Italy.
Cells. 2021 Jan 15;10(1):171. doi: 10.3390/cells10010171.
Corticobasal syndrome (CBS) is an atypical parkinsonian presentation characterized by heterogeneous clinical features and different underlying neuropathology. Most CBS cases are sporadic; nevertheless, reports of families and isolated individuals with genetically determined CBS have been reported. In this systematic review, we analyze the demographical, clinical, radiological, and anatomopathological features of genetically confirmed cases of CBS. A systematic search was performed using the PubMed, EMBASE, and Cochrane Library databases, included all publications in English from 1 January 1999 through 1 August 2020. We found forty publications with fifty-eight eligible cases. A second search for publications dealing with genetic risk factors for CBS led to the review of eight additional articles. was the most common gene involved in CBS, representing 28 out of 58 cases, followed by , and . A set of symptoms was shown to be significantly more common in -CBS patients, including visuospatial impairment, behavioral changes, aphasia, and language alterations. In addition, specific demographical, clinical, biochemical, and radiological features may suggest mutations in other genes. We suggest a diagnostic algorithm to help in identifying potential genetic cases of CBS in order to improve the diagnostic accuracy and to better understand the still poorly defined underlying pathogenetic process.
皮质基底节综合征（CBS）是一种不典型的帕金森表现，其特征为临床表现异质性和不同的潜在神经病理学。大多数 CBS 病例为散发性；然而，已有家族性和遗传性 CBS 的报道。在本系统评价中，我们分析了基因确诊的 CBS 病例的人口统计学、临床、影像学和解剖病理学特征。使用 PubMed、EMBASE 和 Cochrane Library 数据库进行了系统检索，纳入了 1999 年 1 月 1 日至 2020 年 8 月 1 日发表的所有英文出版物。我们找到了 40 篇出版物，其中有 58 个符合条件的病例。对涉及 CBS 遗传风险因素的出版物进行了第二次检索，又对 8 篇文章进行了综述。 是最常见的与 CBS 相关的基因，占 58 例中的 28 例，其次是 、 和 。一组症状在 -CBS 患者中更为常见，包括视觉空间障碍、行为改变、失语和语言改变。此外，特定的人口统计学、临床、生化和影像学特征可能提示其他基因的突变。我们建议了一种诊断算法，以帮助识别潜在的 CBS 遗传病例，从而提高诊断准确性，并更好地了解目前仍定义不明确的潜在发病机制。
