title: Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation.
abstract: Mutations in the gene coding for the Schwann cell transcription factor early growth response 2 (EGR2), which seems to regulate myelinogenesis and hindbrain development, have been observed in few cases of inherited neuropathy. The authors describe a unique combination of cranial nerve deficits in one member of a Charcot-Marie-Tooth 1 family carrying an EGR2 mutation (Arg381His). This finding further supports the role of EGR2 in cranial nerve development.
authors.affiliation: Departments of Neurology, "C. Besta" National Neurological Institute, Milan, Italy. dpareys@tin.it
authors.forename: D
authors.initials: D
authors.lastname: Pareyson
authors.forename: F
authors.initials: F
authors.lastname: Taroni
authors.forename: S
authors.initials: S
authors.lastname: Botti
authors.forename: M
authors.initials: M
authors.lastname: Morbin
authors.forename: S
authors.initials: S
authors.lastname: Baratta
authors.forename: G
authors.initials: G
authors.lastname: Lauria
authors.forename: C
authors.initials: C
authors.lastname: Ciano
authors.forename: A
authors.initials: A
authors.lastname: Sghirlanzoni
mesh_terms: D000328:Adult; D000368:Aged; D002607:Charcot-Marie-Tooth Disease / Q000150:complications*; D003389:Cranial Nerve Diseases / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D051767:Early Growth Response Protein 2; D016057:Evoked Potentials, Auditory, Brain Stem; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000209:etiology; D006579:Heterozygote; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D020125:Mutation, Missense; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D009431:Neural Conduction; D013497:Sural Nerve / Q000473:pathology; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; C497326:EGR2 protein, human; D051767:Early Growth Response Protein 2; D014157:Transcription Factors