title: Recurrent central nervous system white matter changes in charcot-Marie-tooth type X disease.
abstract: BACKGROUND
  X-linked Charcot-Marie-Tooth (CMT1X) disease is caused by mutations in the GJB1 gene. We describe a young man who presented with recurrent central nervous symptoms and transient white matter changes in the setting of a novel mutation in the GJB1 gene.
  
  
  METHODS
  Evaluation included clinical examination, neuroimaging, electrophysiological, and molecular genetic studies.
  
  
  RESULTS
  Clinical examination on 2 admissions 5 years apart demonstrated hemiparesis with findings of underlying peripheral neuropathy. Electrophysiologic studies revealed a sensorimotor polyneuropathy. MRI studies from both admissions revealed white matter changes, with improvement on an intervening study. Mutation analysis showed a novel mutation (c.98T>A; p.Ile33Asn) in the GJB1 gene.
  
  
  CONCLUSIONS
  Mutations in GJB1 can result in recurrent central nervous system symptoms with transient white matter signal changes on MRI. In patients presenting with hemiparesis, the presence of signs of a peripheral neuropathy may facilitate identification of CMT1X, and is likely to affect clinical management.
authors.affiliation: Division of Child Neurology, Nationwide Children's Hospital, 700 Children's Drive, Columbus, Ohio, 43205, USA; Department of Pediatrics, Ohio State University, Columbus, Ohio, USA.
authors.forename: Jennifer L
authors.initials: JL
authors.lastname: McKinney
authors.forename: Emily C
authors.initials: EC
authors.lastname: De Los Reyes
authors.forename: Warren D
authors.initials: WD
authors.lastname: Lo
authors.forename: Kevin M
authors.initials: KM
authors.lastname: Flanigan
mesh_terms: D002490:Central Nervous System / Q000473:pathology*; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics / Q000473:pathology*; D002648:Child; D017630:Connexins / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation / Q000235:genetics; D009413:Nerve Fibers, Myelinated / Q000473:pathology*; D009431:Neural Conduction / Q000235:genetics / Q000502:physiology; D010525:Peripheral Nerves / Q000503:physiopathology; D000097002:Gap Junction beta-1 Protein
chemical_list: D017630:Connexins; D000097002:Gap Junction beta-1 Protein
keywords: GJB1 gene; MRI; Marie; Tooth disease; X-linked Charcot; connexin 32; hereditary motor and sensory polyneuropathy