Clinical Case Reports (Sep 2020)

A new phenotype of choreic syndrome associating severe freezing of gait and chorea

  • Brice Laurens,
  • Claire Delleci,
  • Cyril Goizet,
  • Umberto Spampinato,
  • Pierre Burbaud,
  • Etienne Guillaud,
  • Emma Bestaven,
  • Dominique Guehl

DOI
https://doi.org/10.1002/ccr3.3008
Journal volume & issue
Vol. 8, no. 9
pp. 1806 – 1808

Abstract

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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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