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Pyramidal features research - from Australia

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Abstract from Neurology 2003 Feb 25;60(4):696-9

CMT with pyramidal features.

Vucic S, Kennerson M, Zhu D, Miedema E, Kok C, Nicholson GA.

University of Sydney, Neurobiology Laboratory, ANZAC Research Institute,

Concord Hospital, Australia.

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.

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