Neurogenetics

, Volume 8, Issue 1, pp 39–44

Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination

Authors

    • Clinical and Molecular Genetics UnitInstitute of Child Health
    • Department of Pediatric NeurologyUniversity Children’s Hospital Heidelberg
  • Maria Cundall
    • Clinical and Molecular Genetics UnitInstitute of Child Health
  • Paul Rutland
    • Clinical and Molecular Genetics UnitInstitute of Child Health
  • Elisabeth Rosser
    • Clinical and Molecular Genetics UnitInstitute of Child Health
  • Robert Surtees
    • Neurosciences UnitInstitute of Child Health
    • Pediatric NeurologyGreat Ormond Street Hospital for Children
  • Sarah Benton
    • Pediatric NeurologyGreat Ormond Street Hospital for Children
  • Wui K. Chong
    • RadiologyGreat Ormond Street Hospital for Children
  • Sue Malcolm
    • Clinical and Molecular Genetics UnitInstitute of Child Health
  • Friedrich Ebinger
    • Department of Pediatric NeurologyUniversity Children’s Hospital Heidelberg
  • Maria Bitner-Glindzicz
    • Clinical and Molecular Genetics UnitInstitute of Child Health
  • Karen J. Woodward
    • Clinical and Molecular Genetics UnitInstitute of Child Health
    • Western Diagnostic Pathology
Original Article

DOI: 10.1007/s10048-006-0062-0

Cite this article as:
Wolf, N.I., Cundall, M., Rutland, P. et al. Neurogenetics (2007) 8: 39. doi:10.1007/s10048-006-0062-0

Abstract

Mutations in GJA12 have been shown to cause Pelizaeus–Merzbacher-like disease (PMLD). We present two additional patients from one family carrying a homozygous frameshift mutation in GJA12. Both presented initially with nystagmus. The older girl developed ataxia first, then progressive spastic ataxia. The younger boy suffered from severe sensory neuropathy. Magnetic resonance imaging (MRI) of both children showed progressive demyelination in addition to dysmyelination, and also characteristic brainstem abnormalities. In children with nystagmus, ataxia and dysmyelination, mutation analysis of GJA12 should be considered early, especially if inheritance is autosomal recessive.

Keywords

AtaxiaLeukencephalopathyNeuropathyNystagmusPelizaeus–Merzbacher disease

Copyright information

© Springer-Verlag 2006