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

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.

Detalles Bibliográficos
Autores principales: Laurens, Brice, Delleci, Claire, Goizet, Cyril, Spampinato, Umberto, Burbaud, Pierre, Guillaud, Etienne, Bestaven, Emma, Guehl, Dominique
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7495783/
https://www.ncbi.nlm.nih.gov/pubmed/32983500
http://dx.doi.org/10.1002/ccr3.3008
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author Laurens, Brice
Delleci, Claire
Goizet, Cyril
Spampinato, Umberto
Burbaud, Pierre
Guillaud, Etienne
Bestaven, Emma
Guehl, Dominique
author_facet Laurens, Brice
Delleci, Claire
Goizet, Cyril
Spampinato, Umberto
Burbaud, Pierre
Guillaud, Etienne
Bestaven, Emma
Guehl, Dominique
author_sort Laurens, Brice
collection PubMed
description 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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spelling pubmed-74957832020-09-25 A new phenotype of choreic syndrome associating severe freezing of gait and chorea Laurens, Brice Delleci, Claire Goizet, Cyril Spampinato, Umberto Burbaud, Pierre Guillaud, Etienne Bestaven, Emma Guehl, Dominique Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2020-06-02 /pmc/articles/PMC7495783/ /pubmed/32983500 http://dx.doi.org/10.1002/ccr3.3008 Text en © 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Laurens, Brice
Delleci, Claire
Goizet, Cyril
Spampinato, Umberto
Burbaud, Pierre
Guillaud, Etienne
Bestaven, Emma
Guehl, Dominique
A new phenotype of choreic syndrome associating severe freezing of gait and chorea
title A new phenotype of choreic syndrome associating severe freezing of gait and chorea
title_full A new phenotype of choreic syndrome associating severe freezing of gait and chorea
title_fullStr A new phenotype of choreic syndrome associating severe freezing of gait and chorea
title_full_unstemmed A new phenotype of choreic syndrome associating severe freezing of gait and chorea
title_short A new phenotype of choreic syndrome associating severe freezing of gait and chorea
title_sort new phenotype of choreic syndrome associating severe freezing of gait and chorea
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7495783/
https://www.ncbi.nlm.nih.gov/pubmed/32983500
http://dx.doi.org/10.1002/ccr3.3008
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