Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation.
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.
Pareyson
D
D
Departments of Neurology, "C. Besta" National Neurological Institute, Milan, Italy. dpareys@tin.it
Taroni
F
F
Botti
S
S
Morbin
M
M
Baratta
S
S
Lauria
G
G
Ciano
C
C
Sghirlanzoni
A
A
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*
D004268:DNA-Binding Proteins; C497326:EGR2 protein, human; D051767:Early Growth Response Protein 2; D014157:Transcription Factors