Article
Progressive demyelinating neuropathy correlates with clinical severity in Cockayne syndrome.
Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology - 1 Jul 2015
Gitiaux Cyril, Blin-Rochemaure Nathalie, Hully Marie, Echaniz-Laguna Andoni, Calmels Nadège, Bahi-Buisson Nadia, Desguerre Isabelle, Dabaj Ivana, Wehbi Samer, Quijano-Roy Susana, Laugel Vincent
Abstract excerpt
OBJECTIVE: Cockayne syndrome (CS) is characterized by postnatal growth failure and progressive multi-organ dysfunctions. CSA and CSB gene mutations account for the majority of cases and three degrees of severity are delineated. A peripheral neuropathy is known to be associated with CS but the type, severity and correlation of the nerve involvement with CS subtypes remain unknown in genetically identified...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.