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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.
Afiliación
  • Laurens B; Institut des Maladies Neurodégénératives (IMN) Service de Neurologie CHU Bordeaux Bordeaux France.
  • Delleci C; Service de Médecine Physique et Réadaptation CHU de Bordeaux Bordeaux France.
  • Goizet C; Service de Génétique Médicale CHU Bordeaux Bordeaux France.
  • Spampinato U; MRGM INSERM U1211 Université Bordeaux Bordeaux France.
  • Burbaud P; Institut des Maladies Neurodégénératives (IMN) Service de Neurologie CHU Bordeaux Bordeaux France.
  • Guillaud E; Service de Génétique Médicale CHU Bordeaux Bordeaux France.
  • Bestaven E; Neurocentre Magendie Université de Bordeaux-INSERM U1215 Bordeaux France.
  • Guehl D; Institut des Maladies Neurodégénératives (IMN) Service de Neurologie CHU Bordeaux Bordeaux France.
Clin Case Rep ; 8(9): 1806-1808, 2020 Sep.
Article en En | MEDLINE | ID: mdl-32983500
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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Texto completo: 1 Bases de datos: MEDLINE Tipo de estudio: Risk_factors_studies Idioma: En Revista: Clin Case Rep Año: 2020 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Tipo de estudio: Risk_factors_studies Idioma: En Revista: Clin Case Rep Año: 2020 Tipo del documento: Article