Unravelling Genetic Factors Underlying Corticobasal Syndrome: A Systematic Review

• Main Authors: Federica Arienti, Giulia Lazzeri, Maria Vizziello, Edoardo Monfrini, Nereo Bresolin, Maria Cristina Saetti, Marina Picillo, Giulia Franco, Alessio Di Fonzo
• Format: Article
• Language: English
• Published: MDPI AG 2021-01-01
• Series: Cells
• Subjects: corticobasal syndrome; corticobasal degeneration; CBS; atypical parkinsonism; genetics
• Online Access: https://www.mdpi.com/2073-4409/10/1/171

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. <i>GRN</i> was the most common gene involved in CBS, representing 28 out of 58 cases, followed by <i>MAPT</i>, <i>C9ORF72,</i> and <i>PRNP</i>. A set of symptoms was shown to be significantly more common in <i>GRN</i>-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.