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Unravelling Genetic Factors Underlying Corticobasal Syndrome: A Systematic Review

1
Dino Ferrari Center, Department of Pathophysiology and Transplantation, Neuroscience Section, University of Milan, 20122 Milan, Italy
2
Foundation IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Neurology Unit, 20122 Milan, Italy
3
Center for Neurodegenerative Diseases, Department of Medicine, Surgery and Dentistry, Neuroscience Section, University of Salerno, 84084 Salerno, Italy
*
Author to whom correspondence should be addressed.
Cells 2021, 10(1), 171; https://doi.org/10.3390/cells10010171
Received: 25 November 2020 / Revised: 11 January 2021 / Accepted: 12 January 2021 / Published: 15 January 2021
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. GRN was the most common gene involved in CBS, representing 28 out of 58 cases, followed by MAPT, C9ORF72, and PRNP. A set of symptoms was shown to be significantly more common in GRN-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. View Full-Text
Keywords: corticobasal syndrome; corticobasal degeneration; CBS; atypical parkinsonism; genetics corticobasal syndrome; corticobasal degeneration; CBS; atypical parkinsonism; genetics
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MDPI and ACS Style

Arienti, F.; Lazzeri, G.; Vizziello, M.; Monfrini, E.; Bresolin, N.; Saetti, M.C.; Picillo, M.; Franco, G.; Di Fonzo, A. Unravelling Genetic Factors Underlying Corticobasal Syndrome: A Systematic Review. Cells 2021, 10, 171. https://doi.org/10.3390/cells10010171

AMA Style

Arienti F, Lazzeri G, Vizziello M, Monfrini E, Bresolin N, Saetti MC, Picillo M, Franco G, Di Fonzo A. Unravelling Genetic Factors Underlying Corticobasal Syndrome: A Systematic Review. Cells. 2021; 10(1):171. https://doi.org/10.3390/cells10010171

Chicago/Turabian Style

Arienti, Federica; Lazzeri, Giulia; Vizziello, Maria; Monfrini, Edoardo; Bresolin, Nereo; Saetti, Maria C.; Picillo, Marina; Franco, Giulia; Di Fonzo, Alessio. 2021. "Unravelling Genetic Factors Underlying Corticobasal Syndrome: A Systematic Review" Cells 10, no. 1: 171. https://doi.org/10.3390/cells10010171

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