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Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation.
Departments of Neurology, "C. Besta" National Neurological Institute, Milan, Italy. dpareys@tin.it
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.
PMID: 10762521 [PubMed - indexed for MEDLINE]
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Cited by 4 PubMed Central articles
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Paradoxical role of an egr transcription factor family member, egr2/krox20, in learning and memory.
Poirier R, Cheval H, Mailhes C, Charnay P, Davis S, Laroche S.
Front Behav Neurosci. 2007; 1:6. Epub 2007 Dec 30.
[Front Behav Neurosci. 2007]
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Interactions of Sox10 and Egr2 in myelin gene regulation.
Jones EA, Jang SW, Mager GM, Chang LW, Srinivasan R, Gokey NG, Ward RM, Nagarajan R, Svaren J.
Neuron Glia Biol. 2007 Nov; 3(4):377-87.
[Neuron Glia Biol. 2007]
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Differential regulation of NAB corepressor genes in Schwann cells.
Srinivasan R, Jang SW, Ward RM, Sachdev S, Ezashi T, Svaren J.
BMC Mol Biol. 2007 Dec 20; 8:117. Epub 2007 Dec 20.
[BMC Mol Biol. 2007]
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