A new phenotype of choreic syndrome associating severe freezing of gait and chorea. Issue 9 (2nd June 2020)

• Record Type: Journal Article
• Authors: Laurens, Brice; Delleci, Claire; Goizet, Cyril; Spampinato, Umberto; Burbaud, Pierre; Guillaud, Etienne; Bestaven, Emma; Guehl, Dominique
• Is Part Of: Clinical case reports. Volume 8:Issue 9(2020)
• Page Start: 1806
• Page End: 1808
• Publication Date: 2020-06-02
• Subjects: chorea -- electromyography -- freezing of gait -- gait; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.3008
• Languages: English
• ISSNs: 2050-0904

Abstract

Abstract: The early onset of gait akinesia should not rule out the diagnosis of hereditary chorea. It would be helpful to proceed to a whole‐genome and long‐read sequencing in order to track a new pathogenic variant including noncoding repeat expansion. Abstract : The early onset of gait akinesia should not rule out the diagnosis of hereditary chorea. It would be helpful to proceed to a whole‐genome and long‐read sequencing in order to track a new pathogenic variant including noncoding repeat expansion.