Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation

Authors
Pareyson, D Taroni, F Botti, S Morbin, M Baratta, S Lauria, G Ciano, C Sghirlanzoni, A
Citation
D. Pareyson et al., Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation, NEUROLOGY, 54(8), 2000, pp. 1696-1698
Citations number
10
Categorie Soggetti
Neurology,"Neurosciences & Behavoir
Journal title
NEUROLOGY
ISSN journal
00283878 → ACNP
Volume
54
Issue
8
Year of publication
2000
Pages
1696 - 1698
Database
ISI
SICI code
0028-3878(20000425)54:8<1696:CNIICD>2.0.ZU;2-G
Abstract
Mutations in the gene coding for the Schwann cell transcription factor earl y growth response 2 (EGR2), which seems to regulate myelinogenesis and hind brain 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 (Arg381 His). This finding further supports the role of EGR2 in cranial nerve devel opment.