Clinical Phenotype and Inheritance in Patients With C9ORF72 Hexanucleotide Repeat Expansion: Results From a Large French Cohort

Clinical Phenotype and Inheritance in Patients With C9ORF72 Hexanucleotide Repeat Expansion: Results From a Large French Cohort

BackgroundIn familial amyotrophic lateral sclerosis (ALS) cases, the presence of an abnormal C9ORF72 repeat expansion (C9RE) is the most frequent genetic cause identified. Various clinical phenotypes have been described in relation to the presence of C9RE, including psychiatric disorders or Huntingt...

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Bibliographic Details
Main Authors: Florence Esselin, Kevin Mouzat, Anne Polge, Raul Juntas-Morales, Nicolas Pageot, Elisa De la Cruz, Emilien Bernard, Emmeline Lagrange, Véronique Danel, Sébastien Alphandery, Laura Labar, Erika Nogué, Marie-Christine Picot, Serge Lumbroso, William Camu
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-04-01
Series:Frontiers in Neuroscience
Subjects:
ALS
C9ORF72
clinical phenotype
familial
cohort
Online Access:https://www.frontiersin.org/article/10.3389/fnins.2020.00316/full

Internet

https://www.frontiersin.org/article/10.3389/fnins.2020.00316/full

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