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

  title={Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination},
  author={Nicole I Wolf and Maria Cundall and Paul Rutland and Elisabeth M Rosser and Robert A H Surtees and Sarah Benton and Wui Khean Kling Chong and S. M. Malcolm and Friedrich Ebinger and Maria A. K. Bitner-Glindzicz and Karen J. Woodward},
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… CONTINUE READING


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