ArticleNeurogenetics2007
Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination.
Article in Neurogenetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 45 citations in OpenAlex.
- Gap junction protein gamma 2 (GJC2) gene frameshift deletion in Toy Poodles with hypomyelinating leukodystrophy resembling human Pelizaeus-Merzbacher-like disease 1.The Journal of veterinary medical science · 2026Article
- Overview of Neuro-Ophthalmic Findings in Leukodystrophies.Journal of clinical medicine · 2024Article
- Mechanisms of Diseases Associated with Mutation in GJC2/Connexin 47.Biomolecules · 2023Review
- The role of oligodendrocyte gap junctions in neuroinflammation.Channels (Austin, Tex.) · 2019Review
- Genetic defects disrupting glial ion and water homeostasis in the brain.Brain pathology (Zurich, Switzerland) · 2018Review
- Gene therapy targeting oligodendrocytes provides therapeutic benefit in a leukodystrophy model.Brain : a journal of neurology · 2017Article
- Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form.European journal of human genetics : EJHG · 2013Article
- High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease.Clinical genetics · 2013Article
- "Pelizaeus-Merzbacher-like disease" presenting as complicated hereditary spastic paraplegia.Journal of neurology · 2012Article
- Gap junctions in inherited human disorders of the central nervous system.Biochimica et biophysica acta · 2012Review
- Connexin 47 mutations increase risk for secondary lymphedema following breast cancer treatment.Clinical cancer research : an official journal of the American Association for Cancer Research · 2012Article
- Do cell junction protein mutations cause an airway phenotype in mice or humans?American journal of respiratory cell and molecular biology · 2011Review
- Pathologic and phenotypic alterations in a mouse expressing a connexin47 missense mutation that causes Pelizaeus-Merzbacher-like disease in humans.PLoS genetics · 2011Article
- Magnetic resonance imaging pattern recognition in hypomyelinating disorders.Brain : a journal of neurology · 2010Article
- Pelizaeus-Merzbacher-like disease is caused not only by a loss of connexin47 function but also by a hemichannel dysfunction.European journal of human genetics : EJHG · 2010Article
- Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.Brain : a journal of neurology · 2009Article
Corrections and comments
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Authors and funding
11 authors at 5 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
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.
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