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


     

This Article
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 Vucic, S.
Right arrow Articles by Nicholson, G. A.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Vucic, S.
Right arrow Articles by Nicholson, G. A.
Related Collections
Right arrow All Neuromuscular Disease
Right arrow Peripheral neuropathy
Right arrow All Genetics

Neurology 2003;60:696-699
© 2003 American Academy of Neurology
Brief Communications

CMT with pyramidal features

S. Vucic, MB BS, M. Kennerson, BSc(Hons), MSc(Med), PhD, D. Zhu, BSc MSc, PhD, E. Miedema, C. Kok, MD and G. A. Nicholson, MB BS, FRACP, PhD

From the University of Sydney, Neurobiology Laboratory, ANZAC Research Institute, Concord Hospital, Australia.

Address correspondence and reprint requests to Associate Professor G.A. Nicholson, Molecular Medicine Laboratory and ANZAC Research Institute, Concord Hospital, Sydney, NSW 2139, Australia; e-mail: molmed{at}med.usyd.edu.au

To determine whether Charcot-Marie-Tooth (CMT) with pyramidal features is genetically distinct from other dominantly inherited axonal neuropathies, the authors examined all chromosomal loci and genes for axonal CMT. Two families were identified with an axonal CMT phenotype with distal wasting, weakness, pes cavus, sensory loss, and mild pyramidal signs (including extensor plantar responses, mild increase in tone, and preserved or increased reflexes but no spastic gait). Linkage studies excluded CMT2A, 2B, 2D, 2E, and 2F; ALS4; and HMN2. There were no mutations in the PMP22, MPZ/Po, or EGR2 genes.




This article has been cited by other articles:


Home page
 NeurologyHome page
R. D. Bo, M. Moggio, M. Rango, S. Bonato, M. G. D'Angelo, S. Ghezzi, G. Airoldi, M. T. Bassi, M. Guglieri, L. Napoli, et al.
Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction
Neurology, December 9, 2008; 71(24): 1959 - 1966.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
H.M.E. Bienfait, F. Baas, J. H.T.M. Koelman, R. J. de Haan, B. G.M. van Engelen, A. A.W.M. Gabreels-Festen, B. W. Ongerboer de Visser, F. Meggouh, M. A.J. Weterman, P. De Jonghe, et al.
Phenotype of Charcot-Marie-Tooth disease Type 2
Neurology, May 15, 2007; 68(20): 1658 - 1667.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
D. Zhu, M. L. Kennerson, G. Walizada, S. Zuchner, J. M. Vance, and G. A. Nicholson
Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: Families with and without MFN2 mutations
Neurology, August 9, 2005; 65(3): 496 - 497.
[Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 2003 by AAN Enterprises, Inc.