title: Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination.
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.
authors.affiliation: Clinical and Molecular Genetics Unit, Institute of Child Health, London, UK. nicole.wolf@med.uni-heidelberg.de
authors.forename: Nicole I
authors.initials: NI
authors.lastname: Wolf
authors.forename: Maria
authors.initials: M
authors.lastname: Cundall
authors.forename: Paul
authors.initials: P
authors.lastname: Rutland
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Rosser
authors.forename: Robert
authors.initials: R
authors.lastname: Surtees
authors.forename: Sarah
authors.initials: S
authors.lastname: Benton
authors.forename: Wui K
authors.initials: WK
authors.lastname: Chong
authors.forename: Sue
authors.initials: S
authors.lastname: Malcolm
authors.forename: Friedrich
authors.initials: F
authors.lastname: Ebinger
authors.forename: Maria
authors.initials: M
authors.lastname: Bitner-Glindzicz
authors.forename: Karen J
authors.initials: KJ
authors.lastname: Woodward
mesh_terms: D001259:Ataxia / Q000235:genetics*; D001483:Base Sequence; D001921:Brain / Q000473:pathology; D002493:Central Nervous System Diseases / Q000235:genetics* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D017630:Connexins / Q000235:genetics*; D003711:Demyelinating Diseases / Q000235:genetics* / Q000473:pathology; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D008969:Molecular Sequence Data; D009759:Nystagmus, Pathologic / Q000235:genetics*; D010375:Pedigree
chemical_list: D017630:Connexins; C427305:connexin 47