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
Descripción
Sumario: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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