Original Article

Neurogenetics

, Volume 8, Issue 1, pp 39-44

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

  • Nicole I. WolfAffiliated withClinical and Molecular Genetics Unit, Institute of Child HealthDepartment of Pediatric Neurology, University Children’s Hospital Heidelberg Email author 
  • , Maria CundallAffiliated withClinical and Molecular Genetics Unit, Institute of Child Health
  • , Paul RutlandAffiliated withClinical and Molecular Genetics Unit, Institute of Child Health
  • , Elisabeth RosserAffiliated withClinical and Molecular Genetics Unit, Institute of Child Health
  • , Robert SurteesAffiliated withNeurosciences Unit, Institute of Child HealthPediatric Neurology, Great Ormond Street Hospital for Children
  • , Sarah BentonAffiliated withPediatric Neurology, Great Ormond Street Hospital for Children
  • , Wui K. ChongAffiliated withRadiology, Great Ormond Street Hospital for Children
  • , Sue MalcolmAffiliated withClinical and Molecular Genetics Unit, Institute of Child Health
  • , Friedrich EbingerAffiliated withDepartment of Pediatric Neurology, University Children’s Hospital Heidelberg
    • , Maria Bitner-GlindziczAffiliated withClinical and Molecular Genetics Unit, Institute of Child Health
    • , Karen J. WoodwardAffiliated withClinical and Molecular Genetics Unit, Institute of Child HealthWestern Diagnostic Pathology

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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

Ataxia Leukencephalopathy Neuropathy Nystagmus Pelizaeus–Merzbacher disease