Unusual Charcot-Marie-Tooth phenotype due to a mutation within the intracellular

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Muscle/Nerve Oct. 30 2009

Unusual Charcot-Marie-Tooth phenotype due to a mutation within the intracellular

domain of myelin protein zero.

Schneider-Gold C, Kötting J, Epplen JT, Gold R, Gerding WM.

Department of Neurology, St. f-Hospital, Ruhr-University Bochum,

Gudrunstrasse 56, 44791 Bochum, Germany.

Myelin protein zero (MPZ/P0) constitutes a major component of compact peripheral

myelin. We report a family with a missense mutation, c.700G>T p.Asp234Tyr

(deviant nomenclature: c.670G>T, p.Asp224Tyr), within the intracellular domain

of myelin protein zero, who has distal sensorimotor symptoms, cramps, restless

legs syndrome, neuropathic pain, and carpal tunnel syndrome. The index patient

responded to intravenous immunoglobulin and immunosuppression, so there may be a

possible secondary autoimmune process, probably triggered by altered antigen

presentation due to mutated MPZ protein.