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To determine whether Charco-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 identifi ed with an axonal CMT phenotype with distal wasting, weakness, pees caves, sensory loss, and mild pyramidal signs (including extensor plantar responses, mild increase in tone, and preserves or increased reflexes but no spastic gait). Linkage studies incl ude CMT2A, 2B, 2D, 2E, and 2F; ALS4; and HMN2. There were no mutations in the PMP22, MPZ/Po, or EGR2 genes. |
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