A new phenotype of choreic syndrome associating severe freezing of gait and chorea
Clin Case Rep. 2020-06-02; 8(9): 1806-1808
DOI: 10.1002/ccr3.3008
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1. Clin Case Rep. 2020 Jun 2;8(9):1806-1808. doi: 10.1002/ccr3.3008. eCollection
2020 Sep.
A new phenotype of choreic syndrome associating severe freezing of gait and
chorea.
Laurens B(1), Delleci C(2), Goizet C(3)(4), Spampinato U(1)(3)(5), Burbaud
P(1)(6), Guillaud E(7), Bestaven E(7), Guehl D(1)(6).
Author information:
(1)Institut des Maladies Neurodégénératives (IMN) Service de Neurologie CHU
Bordeaux Bordeaux France.
(2)Service de Médecine Physique et Réadaptation CHU de Bordeaux Bordeaux France.
(3)Service de Génétique Médicale CHU Bordeaux Bordeaux France.
(4)MRGM INSERM U1211 Université Bordeaux Bordeaux France.
(5)Neurocentre Magendie Université de Bordeaux-INSERM U1215 Bordeaux France.
(6)Service d’explorations Fonctionnelles du Système Nerveux CHU de Bordeaux
Bordeaux France.
(7)INCIA UMR5287 Université Bordeaux Bordeaux France.
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.
© 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.
DOI: 10.1002/ccr3.3008
PMCID: PMC7495783
PMID: 32983500
Conflict of interest statement: The authors have no conflict of interest to
declare.