title: Progressive demyelinating neuropathy correlates with clinical severity in Cockayne syndrome.
abstract: 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 patients.
  
  
  METHODS
  Clinical and nerve conduction studies (NCS) in 25 CS patients with CSA (n=13) CSB (n=12) mutations.
  
  
  RESULTS
  NCS show a widespread decrease in motor and sensory conduction velocities (CV) in all severe and classical form of CS. In one patient, CV were normal at age 8months but severe slowing was detected at 2years. Conduction block and/or temporal dispersion were observed in 68% of patients.
  
  
  CONCLUSIONS
  CS is associated with a progressive sensory and motor neuropathy. Signs of segmental demyelination, including conduction blocks, may not be obvious before the age of 2years. CV slowing is correlated with the CS clinical severity.
  
  
  CONCLUSIONS
  NCS should be performed in patients with suspected CS as an additional tool to guide the diagnosis before molecular studies. Further studies focused on NCS course are required in order to assess its relevance as a biomarker in research therapy projects.
authors.affiliation: Service de Neurologie Pédiatrique et Maladies Métaboliques, Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; Service d'explorations Fonctionnelles, Laboratoire de Neurophysiologie Clinique, Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France. Electronic address: cyril.gitiaux@nck.aphp.fr.
authors.forename: Cyril
authors.initials: C
authors.lastname: Gitiaux
authors.affiliation: Service de Pédiatrie, Hôpital de Garches, Garches, France.
authors.forename: Nathalie
authors.initials: N
authors.lastname: Blin-Rochemaure
authors.affiliation: Service de Neurologie Pédiatrique et Maladies Métaboliques, Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.
authors.forename: Marie
authors.initials: M
authors.lastname: Hully
authors.affiliation: Département de Neurologie, CHU Hautepierre, F-67098 Strasbourg, France.
authors.forename: Andoni
authors.initials: A
authors.lastname: Echaniz-Laguna
authors.affiliation: Laboratoire de Diagnostic Génétique, Nouvel Hôpital Civil, F-67091 Strasbourg, France.
authors.forename: Nadège
authors.initials: N
authors.lastname: Calmels
authors.affiliation: Service de Neurologie Pédiatrique et Maladies Métaboliques, Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.
authors.forename: Nadia
authors.initials: N
authors.lastname: Bahi-Buisson
authors.affiliation: Service de Neurologie Pédiatrique et Maladies Métaboliques, Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Desguerre
authors.affiliation: Service de Pédiatrie, Hôpital de Garches, Garches, France.
authors.forename: Ivana
authors.initials: I
authors.lastname: Dabaj
authors.affiliation: Service de Pédiatrie, Hôpital de Versailles, Versailles, France.
authors.forename: Samer
authors.initials: S
authors.lastname: Wehbi
authors.affiliation: Service de Pédiatrie, Hôpital de Garches, Garches, France.
authors.forename: Susana
authors.initials: S
authors.lastname: Quijano-Roy
authors.affiliation: Laboratoire de Génétique Médicale, INSERM 1112, Faculté de Médecine, F-67085 Strasbourg, France.
authors.forename: Vincent
authors.initials: V
authors.lastname: Laugel
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003057:Cockayne Syndrome / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D004265:DNA Helicases / Q000235:genetics; D045643:DNA Repair Enzymes / Q000235:genetics; D003711:Demyelinating Diseases / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D018450:Disease Progression; D004576:Electromyography; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D009431:Neural Conduction / Q000502:physiology*; D009482:Neurophysiology; D000075223:Poly-ADP-Ribose Binding Proteins; D012189:Retrospective Studies; D012720:Severity of Illness Index; D014157:Transcription Factors / Q000235:genetics; D055815:Young Adult
chemical_list: C095472:ERCC8 protein, human; D000075223:Poly-ADP-Ribose Binding Proteins; D014157:Transcription Factors; D004265:DNA Helicases; C078673:ERCC6 protein, human; D045643:DNA Repair Enzymes
keywords: Cockayne syndrome; ERCC6/CSB; ERCC8/CSA; Peripheral neuropathy