Neurology
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
QUICK SEARCH:   [advanced]


     

This Article
Right arrow Figures Only
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Correspondence:
Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when Correspondence are posted
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Pareyson, D.
Right arrow Articles by Sghirlanzoni, A.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Pareyson, D.
Right arrow Articles by Sghirlanzoni, A.
Neurology 2000;54:1696-1698
© 2000 American Academy of Neurology
Brief Communications

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

D. Pareyson, MD, F. Taroni, MD, S. Botti, PhD, M. Morbin, MD, S. Baratta, PhD, G. Lauria, MD, C. Ciano, MD and A. Sghirlanzoni, MD

From the Departments of Neurology (Drs. Pareyson, Lauria, and Sghirlanzoni), Experimental Neurosciences (Drs. Taroni, Botti, and Baratta), Neuropathology (Dr. Morbin), and Clinical Neurophysiology (Dr. Ciano), "C. Besta" National Neurological Institute, Milan, Italy.

Address reprint requests and correspondence to Dr. Davide Pareyson, Department of Neurology, "C. Besta" National Neurological Institute, Via Celoria 11, 20133 Milan, Italy; e-mail dpareys{at}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.

Key words: Charcot-Marie-Tooth disease—EGR2—Cranial nerves—Myelin genes—Demyelinating neuropathy.




This article has been cited by other articles:


Home page
 BrainHome page
T. Sevilla, T. Jaijo, D. Nauffal, D. Collado, M. J. Chumillas, J. J. Vilchez, N. Muelas, L. Bataller, R. Domenech, C. Espinos, et al.
Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy
Brain, November 1, 2008; 131(11): 3051 - 3061.
[Abstract] [Full Text] [PDF]

Home page
 J. Neurosci.Home page
A. Desmazieres, L. Decker, J.-M. Vallat, P. Charnay, and P. Gilardi-Hebenstreit
Disruption of Krox20-Nab Interaction in the Mouse Leads to Peripheral Neuropathy with Biphasic Evolution
J. Neurosci., June 4, 2008; 28(23): 5891 - 5900.
[Abstract] [Full Text] [PDF]

Home page
 Mol. Cell. Biol.Home page
S. E. LeBlanc, R. M. Ward, and J. Svaren
Neuropathy-Associated Egr2 Mutants Disrupt Cooperative Activation of Myelin Protein Zero by Egr2 and Sox10
Mol. Cell. Biol., May 1, 2007; 27(9): 3521 - 3529.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
B. Tackenberg, J. C. Moller, H. Rindock, S. Bien, N. Sommer, W. H. Oertel, F. Rosenow, K. Schepelmann, H. M. Hamer, and O. Bandmann
CNS involvement in hereditary neuropathy with pressure palsies (HNPP)
Neurology, December 26, 2006; 67(12): 2250 - 2252.
[Abstract] [Full Text] [PDF]

Home page
 J. Neurosci.Home page
L. Decker, C. Desmarquet-Trin-Dinh, E. Taillebourg, J. Ghislain, J.-M. Vallat, and P. Charnay
Peripheral myelin maintenance is a dynamic process requiring constant Krox20 expression.
J. Neurosci., September 20, 2006; 26(38): 9771 - 9779.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
A. L. Gillian and J. Svaren
The Ddx20/DP103 Dead Box Protein Represses Transcriptional Activation by Egr2/Krox-20
J. Biol. Chem., March 5, 2004; 279(10): 9056 - 9063.
[Abstract] [Full Text] [PDF]

Home page
 BrainHome page
T. Sevilla, A. Cuesta, M. J. Chumillas, F. Mayordomo, L. Pedrola, F. Palau, and J. J. Vilchez
Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene
Brain, September 1, 2003; 126(9): 2023 - 2033.
[Abstract] [Full Text] [PDF]

Home page
 J. Neurol. Neurosurg. PsychiatryHome page
M McEntagart, M Dunstan, C Bell, E Boltshauser, M Donaghy, P S Harper, N Williams, M D Teare, and N Rahman
Clinical and genetic heterogeneity in peroneal muscular atrophy associated with vocal cord weakness
J. Neurol. Neurosurg. Psychiatry, December 1, 2002; 73(6): 762 - 765.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
N Vandenberghe, M Upadhyaya, A Gatignol, L Boutrand, M Boucherat, G Chazot, A Vandenberghe, and P Latour
Frequency of mutations in the early growth response 2 gene associated with peripheral demyelinating neuropathies
J. Med. Genet., December 1, 2002; 39(12): e81 - 81.
[Full Text] [PDF]

Home page
 Hum Mol GenetHome page
N. Bondurand, M. Girard, V. Pingault, N. Lemort, O. Dubourg, and M. Goossens
Human Connexin 32, a gap junction protein altered in the X-linked form of Charcot-Marie-Tooth disease, is directly regulated by the transcription factor SOX10
Hum. Mol. Genet., November 1, 2001; 10(24): 2783 - 2795.
[Abstract] [Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 2000 by AAN Enterprises, Inc.