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.
Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation / D. Pareyson, F. Taroni, S. Botti, M. Morbin, S. Baratta, G. Lauria, C. Ciano, A. Sghirlanzoni. - In: NEUROLOGY. - ISSN 0028-3878. - 54:8(2000 Apr 25), pp. 1696-1698. ((Intervento presentato al 9. convegno Meeting of the European-Neurological-Society (ENS) : June, 5th - 9th tenutosi a Milano nel 1999 [10.1212/WNL.54.8.1696].
Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation
G. Lauria;
2000
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.
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