Fiche publication
Date publication
février 2021
Journal
Orphanet journal of rare diseases
Auteurs
Membres identifiés du Cancéropôle Est :
Dr LE MAY Nicolas
Tous les auteurs :
Spitz MA, Severac F, Obringer C, Baer S, Le May N, Calmels N, Laugel V
Lien Pubmed
Résumé
Cockayne syndrome is a progressive multisystem genetic disorder linked to defective DNA repair and transcription. This rare condition encompasses a very wide spectrum of clinical severity levels ranging from severe prenatal onset to mild adult-onset subtypes. The rarity, complexity and variability of the disease make early diagnosis and severity assessment difficult. Based on similar approaches in other neurodegenerative disorders, we propose to validate diagnostic and severity scores for Cockayne syndrome.
Mots clés
Clinical severity, Cockayne syndrome, Diagnosis, Score
Référence
Orphanet J Rare Dis. 2021 Feb 3;16(1):63
