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.
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APA
Laurens, B., Delleci, C., Goizet, C., Spampinato, U., Burbaud, P., Guillaud, E., … Guehl, D. (2020). A new phenotype of choreic syndrome associating severe freezing of gait and chorea. Clinical Case Reports, 8(9), 1806–1808. https://doi.org/10.1002/ccr3.3008
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