Unusual Charcot-Marie-Tooth phenotype due to a mutation within the intracellular domain of myelin protein zero.
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.
Schneider-Gold
Christiane
C
Department of Neurology, St. Josef-Hospital, Ruhr-University Bochum, Gudrunstrasse 56, 44791 Bochum, Germany. christiane.schneider-Gold@rub.de
Kötting
Judith
J
Epplen
Jörg T
JT
Gold
Ralf
R
Gerding
Wanda M
WM
D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D007424:Intracellular Fluid / Q000737:chemistry / Q000378:metabolism; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D018993:Myelin P0 Protein / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D017434:Protein Structure, Tertiary / Q000235:genetics
D018993:Myelin P0 Protein