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Neurology 2003;60:696-699 © 2003 American Academy of Neurology Brief Communications CMT with pyramidal featuresFrom 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:
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