Neurogenetics

, Volume 8, Issue 1, pp 39–44

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

  • Nicole I. Wolf
  • Maria Cundall
  • Paul Rutland
  • Elisabeth Rosser
  • Robert Surtees
  • Sarah Benton
  • Wui K. Chong
  • Sue Malcolm
  • Friedrich Ebinger
  • Maria Bitner-Glindzicz
  • Karen J. Woodward
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

Authors and Affiliations

  • Nicole I. Wolf
    • 1
    • 2
  • Maria Cundall
    • 1
  • Paul Rutland
    • 1
  • Elisabeth Rosser
    • 1
  • Robert Surtees
    • 3
    • 4
  • Sarah Benton
    • 4
  • Wui K. Chong
    • 5
  • Sue Malcolm
    • 1
  • Friedrich Ebinger
    • 2
  • Maria Bitner-Glindzicz
    • 1
  • Karen J. Woodward
    • 1
    • 6
  1. 1.Clinical and Molecular Genetics UnitInstitute of Child HealthLondonUK
  2. 2.Department of Pediatric NeurologyUniversity Children’s Hospital HeidelbergHeidelbergGermany
  3. 3.Neurosciences UnitInstitute of Child HealthLondonUK
  4. 4.Pediatric NeurologyGreat Ormond Street Hospital for ChildrenLondonUK
  5. 5.RadiologyGreat Ormond Street Hospital for ChildrenLondonUK
  6. 6.Western Diagnostic PathologyPerthAustralia